Publication catalog

Biomedical publications with connected research

Browse 1,060,000 source-attributed publications. Article pages show available bibliographic context, indexed concepts and SPECTER2 related publications where supported by the source and graph. Missing metadata is not invented, and source retraction notices remain visible.

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Publications

Page 8948 of 10600

Haptoglobin Induces a Specific Proteomic Profile and a Mature-Associated Phenotype on Primary Human Monocyte-Derived Dendritic Cells.
International journal of molecular sciences | 2022-06-21 | PMID 35805888
Torres Alfredo, Vivanco Sheilah, Lavín Francisca and 9 more
The Regulatory Role of H19/miR-181a/ATG5 Signaling in Perinatal Nicotine Exposure-Induced Development of Neonatal Brain Hypoxic-Ischemic Sensitive Phenotype.
International journal of molecular sciences | 2022-06-21 | PMID 35805891
Li Yong, Zhang Yanyan, Walayat Andrew and 4 more
Seventy-Two-Hour LRRK2 Kinase Activity Inhibition Increases Lysosomal GBA Expression in H4, a Human Neuroglioma Cell Line.
International journal of molecular sciences | 2022-06-22 | PMID 35805938
Ruz Clara, Alcantud José Luis, Vives Francisco and 5 more
Acquired Resistance to Osimertinib in EGFR-Mutated Non-Small Cell Lung Cancer: How Do We Overcome It?
International journal of molecular sciences | 2022-06-22 | PMID 35805940
Bertoli Elisa, De Carlo Elisa, Del Conte Alessandro and 5 more
3D Chromatin Organization Involving MEIS1 Factor in the cis-Regulatory Landscape of GJB2.
International journal of molecular sciences | 2022-06-23 | PMID 35805969
Le Nabec Anaïs, Blotas Clara, Briset Alinéor and 3 more
Silencing of the Ca2+ Channel ORAI1 Improves the Multi-Systemic Phenotype of Tubular Aggregate Myopathy (TAM) and Stormorken Syndrome (STRMK) in Mice.
International journal of molecular sciences | 2022-06-23 | PMID 35805973
Silva-Rojas Roberto, Pérez-Guàrdia Laura, Lafabrie Emma and 3 more
Molecular Allergen-Specific IgE Recognition Profiles and Cumulative Specific IgE Levels Associated with Phenotypes of Cat Allergy.
International journal of molecular sciences | 2022-06-23 | PMID 35805985
Riabova Ksenja, Karsonova Antonina V, van Hage Marianne and 10 more
State-of-the-Art Molecular Oncology of Lung Cancer in Taiwan.
International journal of molecular sciences | 2022-06-24 | PMID 35806042
Luo Yung-Hung, Liang Kung-Hao, Huang Hsu-Ching and 5 more
Biochemical, Enzymatic, and Computational Characterization of Recurrent Somatic Mutations of the Human Protein Tyrosine Phosphatase PTP1B in Primary Mediastinal B Cell Lymphoma.
International journal of molecular sciences | 2022-06-24 | PMID 35806064
Liu Rongxing, Sun Yujie, Berthelet Jérémy and 6 more
Cathepsin B p.Gly284Val Variant in Parkinson's Disease Pathogenesis.
International journal of molecular sciences | 2022-06-25 | PMID 35806091
Milanowski Lukasz M, Hou Xu, Bredenberg Jenny M and 35 more
Modeling of the Senescence-Associated Phenotype in Human Skin Fibroblasts.
International journal of molecular sciences | 2022-06-27 | PMID 35806127
Gerasymchuk Marta, Robinson Gregory Ian, Kovalchuk Olga and 1 more
MGMT and Whole-Genome DNA Methylation Impacts on Diagnosis, Prognosis and Therapy of Glioblastoma Multiforme.
International journal of molecular sciences | 2022-06-27 | PMID 35806153
Della Monica Rosa, Cuomo Mariella, Buonaiuto Michela and 6 more
Newly Discovered Alleles of the Tomato Antiflorigen Gene SELF PRUNING Provide a Range of Plant Compactness and Yield.
International journal of molecular sciences | 2022-06-28 | PMID 35806155
Kang Min-Sung, Kim Yong Jun, Heo Jung and 5 more
Spanish Melon Landraces: Revealing Useful Diversity by Genomic, Morphological, and Metabolomic Analysis.
International journal of molecular sciences | 2022-06-28 | PMID 35806170
Flores-León Alejandro, Peréz Moro Clara, Martí Raul and 4 more
Molecular Modelling Hurdle in the Next-Generation Sequencing Era.
International journal of molecular sciences | 2022-06-28 | PMID 35806177
Fernandez Guerau, Yubero Dèlia, Palau Francesc and 1 more
Genetic LGALS1 Variants Are Associated with Heterogeneity in Galectin-1 Serum Levels in Patients with Early Arthritis.
International journal of molecular sciences | 2022-06-28 | PMID 35806182
Triguero-Martínez Ana, Roy-Vallejo Emilia, Montes Nuria and 5 more
Retrospective Natural History Study of RPGR-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease.
International journal of molecular sciences | 2022-06-28 | PMID 35806195
Nassisi Marco, De Bartolo Giuseppe, Mohand-Said Saddek and 10 more
The Therapeutic Potential of the Restoration of the p53 Protein Family Members in the EGFR-Mutated Lung Cancer.
International journal of molecular sciences | 2022-06-29 | PMID 35806218
Fregni Matilde, Ciribilli Yari, Zawacka-Pankau Joanna E
Breast Milk MicroRNAs Related to Leptin and Adiponectin Function Can Be Modulated by Maternal Diet and Influence Offspring Phenotype in Rats.
International journal of molecular sciences | 2022-06-29 | PMID 35806240
Alonso-Bernáldez Marta, Asensio Antoni, Palou-March Andreu and 4 more
Utilization of AlphaFold2 to Predict MFS Protein Conformations after Selective Mutation.
International journal of molecular sciences | 2022-06-29 | PMID 35806248
Xiao Qingjie, Xu Mengxue, Wang Weiwei and 4 more
The Role of Polymorphisms at the Interleukin-1, Interleukin-4, GATA-3 and Cyclooxygenase-2 Genes in Non-Surgical Periodontal Therapy.
International journal of molecular sciences | 2022-06-30 | PMID 35806269
Walther Kay-Arne, Gonzales José Roberto, Gröger Sabine and 9 more
Targeting the SREBP-1/Hsa-Mir-497/SCAP/FASN Oncometabolic Axis Inhibits the Cancer Stem-like and Chemoresistant Phenotype of Non-Small Cell Lung Carcinoma Cells.
International journal of molecular sciences | 2022-06-30 | PMID 35806291
Tiong Tung-Yu, Weng Pei-Wei, Wang Chun-Hua and 7 more
Next-Generation Grade and Survival Expression Biomarkers of Human Gliomas Based on Algorithmically Reconstructed Molecular Pathways.
International journal of molecular sciences | 2022-06-30 | PMID 35806337
Zolotovskaia Marianna A, Kovalenko Max A, Tkachev Victor S and 6 more
Homozygosity for a Novel DOCK7 Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual Impairment.
International journal of molecular sciences | 2022-07-02 | PMID 35806387
Kivrak Pfiffner Fatma, Koller Samuel, Ménétrey Anika and 7 more
Mutation-Specific Differences in Kv7.1 (KCNQ1) and Kv11.1 (KCNH2) Channel Dysfunction and Long QT Syndrome Phenotypes.
International journal of molecular sciences | 2022-07-02 | PMID 35806392
Kekenes-Huskey Peter M, Burgess Don E, Sun Bin and 6 more
The Analysis of a Genome-Wide Association Study (GWAS) of Overweight and Obesity in Psoriasis.
International journal of molecular sciences | 2022-07-02 | PMID 35806402
Kisielnicka Anna, Sobalska-Kwapis Marta, Purzycka-Bohdan Dorota and 22 more
The Clinical Spectrum and Disease Course of DRAM2 Retinopathy.
International journal of molecular sciences | 2022-07-02 | PMID 35806404
Krašovec Tjaša, Volk Marija, Šuštar Habjan Maja and 3 more
Effect of Silver Nanoparticles on the In Vitro Regeneration, Biochemical, Genetic, and Phenotype Variation in Adventitious Shoots Produced from Leaf Explants in Chrysanthemum.
International journal of molecular sciences | 2022-07-03 | PMID 35806413
Tymoszuk Alicja, Kulus Dariusz
Low Efficacy of Genetic Tests for the Diagnosis of Primary Lymphedema Prompts Novel Insights into the Underlying Molecular Pathways.
International journal of molecular sciences | 2022-07-03 | PMID 35806420
Bonetti Gabriele, Paolacci Stefano, Samaja Michele and 9 more
An Iron Refractory Phenotype in Obese Adipose Tissue Macrophages Leads to Adipocyte Iron Overload.
International journal of molecular sciences | 2022-07-03 | PMID 35806422
Ameka Magdalene K, Beavers William N, Shaver Ciara M and 8 more
Impaired Bestrophin Channel Activity in an iPSC-RPE Model of Best Vitelliform Macular Dystrophy (BVMD) from an Early Onset Patient Carrying the P77S Dominant Mutation.
International journal of molecular sciences | 2022-07-04 | PMID 35806438
Navinés-Ferrer Arnau, Ruiz-Nogales Sheila, Navarro Rafael and 1 more
Identification of Spliceogenic Variants beyond Canonical GT-AG Splice Sites in Hereditary Cancer Genes.
International journal of molecular sciences | 2022-07-04 | PMID 35806449
Dragoš Vita Šetrajčič, Strojnik Ksenija, Klančar Gašper and 6 more
Overexpression of UBA5 in Cells Mimics the Phenotype of Cells Lacking UBA5.
International journal of molecular sciences | 2022-07-04 | PMID 35806453
Kumari Sujata, Banerjee Sayanika, Kumar Manoj and 6 more
NRN1 Gene as a Potential Marker of Early-Onset Schizophrenia: Evidence from Genetic and Neuroimaging Approaches.
International journal of molecular sciences | 2022-07-05 | PMID 35806464
Almodóvar-Payá Carmen, Guardiola-Ripoll Maria, Giralt-López Maria and 17 more
Functions of Breast Cancer Predisposition Genes: Implications for Clinical Management.
International journal of molecular sciences | 2022-07-05 | PMID 35806485
Yoshimura Akiyo, Imoto Issei, Iwata Hiroji
Synthesis of a New β-Galactosidase Inhibitor Displaying Pharmacological Chaperone Properties for GM1 Gangliosidosis.
Molecules (Basel, Switzerland) | 2022-06-22 | PMID 35807262
Clemente Francesca, Martínez-Bailén Macarena, Matassini Camilla and 6 more
Molecular Analysis and Conformational Dynamics of Human MC4R Disease-Causing Mutations.
Molecules (Basel, Switzerland) | 2022-06-23 | PMID 35807283
Fatima Munazza Tamkeen, Islam Zeyaul, Kolatkar Prasanna R and 1 more
Insights into the Allosteric Effect of SENP1 Q597A Mutation on the Hydrolytic Reaction of SUMO1 via an Integrated Computational Study.
Molecules (Basel, Switzerland) | 2022-06-28 | PMID 35807394
Ji Mingfei, Chai Zongtao, Chen Jie and 7 more
Assessing the Association between Important Dietary Habits and Osteoporosis: A Genetic Correlation and Two-Sample Mendelian Randomization Study.
Nutrients | 2022-06-27 | PMID 35807838
Xu Jiawen, Li Shuai, Zeng Yi and 4 more
Genetic Variants in Folate and Cobalamin Metabolism-Related Genes in Pregnant Women of a Homogeneous Spanish Population: The Need for Revisiting the Current Vitamin Supplementation Strategies.
Nutrients | 2022-06-29 | PMID 35807880
Rodriguez-Carnero Gemma, Lorenzo Paula M, Canton-Blanco Ana and 7 more
Impact of Lipid Genetic Risk Score and Saturated Fatty Acid Intake on Central Obesity in an Asian Indian Population.
Nutrients | 2022-06-29 | PMID 35807893
Wuni Ramatu, Adela Nathania Evelyn, Ayyappa Ashok K and 10 more
The Associations of Selenoprotein Genetic Variants with the Risks of Colorectal Adenoma and Colorectal Cancer: Case-Control Studies in Irish and Czech Populations.
Nutrients | 2022-06-29 | PMID 35807897
Mukhtar Maryam, Ashfield Niall, Vodickova Ludmila and 11 more
Adherence to MIND Diet, Genetic Susceptibility, and Incident Dementia in Three US Cohorts.
Nutrients | 2022-07-03 | PMID 35807939
Vu Thanh Huyen T, Beck Todd, Bennett David A and 6 more
Phytochemical Components and Human Health Effects of Old versus Modern Italian Wheat Varieties: The Case of Durum Wheat Senatore Cappelli.
Nutrients | 2022-07-05 | PMID 35807959
Giacosa Attilio, Peroni Gabriella, Rondanelli Mariangela
Multi-omics analyses of 398 foxtail millet accessions reveal genomic regions associated with domestication, metabolite traits, and anti-inflammatory effects.
Molecular plant | 2022-08-01 | PMID 35808829
Li Xukai, Gao Jianhua, Song Jingyi and 20 more
Toxic and nutritional factors trigger Leber hereditary optic neuropathy due to a mitochondrial tRNA mutation.
Clinical genetics | 2022-10-01 | PMID 35808913
Vela-Sebastián Ana, López-Gallardo Ester, Emperador Sonia and 10 more
Identification of genetic variants of the IL-22 gene in association with an altered risk of COPD susceptibility.
The clinical respiratory journal | 2022-08-01 | PMID 35808996
Wang Yan, Zhou Qipeng, Chen Lingzhu and 8 more
Evolution of Human-Specific Alleles Protecting Cognitive Function of Grandmothers.
Molecular biology and evolution | 2022-08-03 | PMID 35809046
Saha Sudeshna, Khan Naazneen, Comi Troy and 9 more
Chromosome-level assembly and annotation of the blue catfish Ictalurus furcatus, an aquaculture species for hybrid catfish reproduction, epigenetics, and heterosis studies.
GigaScience | 2022-07-09 | PMID 35809049
Wang Haolong, Su Baofeng, Butts Ian A E and 2 more
Toxoplasma gondii clonal type III is the dominant genotype identified in Grenadian pigs.
Veterinary medicine and science | 2022-09-01 | PMID 35809056
Chikweto Alfred, Alhassan Andy, Su Chunlei and 3 more
Clinical characteristics of Japanese patients with polycythemia vera: results of the JSH-MPN-R18 study.
International journal of hematology | 2022-11-01 | PMID 35809214
Edahiro Yoko, Ito Tomoki, Gotoh Akihiko and 21 more
Inter- and intra-chromosomal modulators of the APOE ɛ2 and ɛ4 effects on the Alzheimer's disease risk.
GeroScience | 2023-02-01 | PMID 35809216
Nazarian Alireza, Philipp Ian, Culminskaya Irina and 2 more
Genes: APOE
Phenotypic Pattern of Early Versus Later-Onset Pediatric Inflammatory Bowel Disease in a Eurasian Country.
Journal of pediatric gastroenterology and nutrition | 2022-10-01 | PMID 35809240
S Akkelle Bilge, Ertem Deniz, Volkan Burcu and 1 more
Investigation on prevalence, risk factors, and genetic diversity of Pediculus humanus capitis among primary school children.
Cellular and molecular biology (Noisy-le-Grand, France) | 2022-01-02 | PMID 35809265
Al-Daoody Ahmed Akil Khudhair, Mohammed Asmaa Khalis, Jabbary Hawri Hawar Mohammed and 5 more
Risk assessment of gastric cancer in the presence of Helicobacter pylori cagA and hopQII genes.
Cellular and molecular biology (Noisy-le-Grand, France) | 2022-01-02 | PMID 35809276
Guo Xiaohui, Yin Binghua, Wang Can and 2 more
The effect of visfatin genotype on insulin pump therapy on quality of life in patients with type I diabetes.
Cellular and molecular biology (Noisy-le-Grand, France) | 2022-01-02 | PMID 35809287
Jianjun Lv, Xiaona Liu, Hong Li
VDR Gene Polymorphisms in Kurdish Population and Its Relation to T1DM in Erbil-Iraq.
Cellular and molecular biology (Noisy-le-Grand, France) | 2022-05-22 | PMID 35809334
Othman Galawezh Obaid
Comprehensive omics studies of p53 mutants in human cancer.
Briefings in functional genomics | 2023-04-13 | PMID 35809339
Malhotra Lakshay, Singh Alankrita, Kaur Punit and 1 more
MECP2 Dysautonomia Phenotypes in Boys.
Pediatric neurology | 2022-09-01 | PMID 35809380
Courgeon Lisa, Uguen Kévin, Lefranc Jérémie and 2 more
C. elegans ribosomal protein S3 protects against H2O2-induced DNA damage and suppresses spontaneous mutations in yeast.
DNA repair | 2022-09-01 | PMID 35809390
Elsakrmy Noha, Aouida Mustapha, Hindi Nagham and 4 more
In silico analysis of SARS-CoV-2 spike protein N501Y and N501T mutation effects on human ACE2 binding.
Journal of molecular graphics & modelling | 2022-11-01 | PMID 35809511
Çubuk Hasan, Özbi L Mehmet
Genetic variation associated with condensate dysregulation in disease.
Developmental cell | 2022-07-25 | PMID 35809564
Banani Salman F, Afeyan Lena K, Hawken Susana W and 9 more
Structural basis of human ACE2 higher binding affinity to currently circulating Omicron SARS-CoV-2 sub-variants BA.2 and BA.1.1.
Cell | 2022-08-04 | PMID 35809570
Li Linjie, Liao Hanyi, Meng Yumin and 15 more
Single mutations toggle the substrate selectivity of multifunctional Camptotheca secologanic acid synthases.
The Journal of biological chemistry | 2022-09-01 | PMID 35809640
Miller Justin C, Schuler Mary A
Allosteric enhancement of the BCR-Abl1 kinase inhibition activity of nilotinib by cobinding of asciminib.
The Journal of biological chemistry | 2022-08-01 | PMID 35809644
Oruganti Baswanth, Lindahl Erik, Yang Jingmei and 3 more
Identification of a novel variant of hepatitis B virus isolated from patient co-infected with hepatitis C virus.
Virus research | 2022-10-02 | PMID 35809696
Shaha Modhusudon, Majumder Sumen, Hossain Md Saddam and 10 more
ESMO recommendations on the use of circulating tumour DNA assays for patients with cancer: a report from the ESMO Precision Medicine Working Group.
Annals of oncology : official journal of the European Society for Medical Oncology | 2022-08-01 | PMID 35809752
Pascual J, Attard G, Bidard F-C and 17 more
Variations in genetics, biology, and phenotype of cutaneous disorders in skin of color - Part I: Genetic, biologic, and structural differences in skin of color.
Journal of the American Academy of Dermatology | 2022-12-01 | PMID 35809800
Brown-Korsah Jessica B, McKenzie Shanice, Omar Deega and 3 more
Pre-steady-state kinetic and mutational insights into mechanisms of endo- and exonuclease DNA processing by mutant forms of human AP endonuclease.
Biochimica et biophysica acta. General subjects | 2022-12-01 | PMID 35809816
Bakman Artemiy S, Ishchenko Alexander A, Saparbaev Murat and 2 more
Assessing putative bias in prediction of anti-microbial resistance from real-world genotyping data under explicit causal assumptions.
Artificial intelligence in medicine | 2022-08-01 | PMID 35809965
Prosperi Mattia, Boucher Christina, Bian Jiang and 1 more
The contribution of DNA repair pathways to genome editing and evolution in filamentous pathogens.
FEMS microbiology reviews | 2022-11-02 | PMID 35810003
Huang Jun, Cook David E
Audit of Molecular Mechanisms of Primary and Secondary Resistance to Various Generations of Tyrosine Kinase Inhibitors in Known Epidermal Growth Factor Receptor-Mutant Non-small Cell Lung Cancer Patients in a Tertiary Centre.
Clinical oncology (Royal College of Radiologists (Great Britain)) | 2022-11-01 | PMID 35810049
Suryavanshi M, Jaipuria J, Mattoo S and 2 more
Intra-host diversity of drug-resistant cytomegalovirus: A case report of cytomegalovirus infection after allogeneic hematopoietic cell transplantation.
Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy | 2022-10-01 | PMID 35810104
Jung Ji-Yoon, Nho Dukhee, Cho Sung-Yeon and 5 more
RHD 1227 A and hybrid Rhesus box analysis in Thai RhD+ and RhD- blood donors: Prevalence, RHD zygosity, and molecular screening.
Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis | 2022-12-01 | PMID 35810119
Simtong Piyapong, Phothi Rattanaporn, Puapairoj Chintana and 2 more
Size matters for linking traits to ecosystem multifunctionality.
Trends in ecology & evolution | 2022-09-01 | PMID 35810137
Guo Chao, Yan En-Rong, Cornelissen J Hans C
Variance-quantitative trait loci enable systematic discovery of gene-environment interactions for cardiometabolic serum biomarkers.
Nature communications | 2022-07-09 | PMID 35810165
Westerman Kenneth E, Majarian Timothy D, Giulianini Franco and 8 more
Interchromosomal interaction of homologous Stat92E alleles regulates transcriptional switch during stem-cell differentiation.
Nature communications | 2022-07-09 | PMID 35810185
Antel Matthew, Raj Romir, Masoud Madona Y G and 4 more
Genetic diversity and population structure of critically endangered Dactylorhiza hatagirea (D. Don) Soo from North-Western Himalayas and implications for conservation.
Scientific reports | 2022-07-09 | PMID 35810208
Sharma Shilpa, Chhabra Meenu, Singh Sunil Kumar and 2 more
Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies.
Acta neuropathologica communications | 2022-07-09 | PMID 35810298
Labasse Clémence, Brochier Guy, Taratuto Ana-Lia and 27 more
Chromosomal inversions can limit adaptation to new environments.
Molecular ecology | 2022-09-01 | PMID 35810344
Roesti Marius, Gilbert Kimberly J, Samuk Kieran
Genotyping and evaluation of interleukin-10 and soluble HLA-G in abortion due to toxoplasmosis and HSV-2 infections.
Annals of parasitology | 2022-01-01 | PMID 35810388
Jiad Abdulla L, Ismael May K, Salih Taher A and 2 more
[Analysis of results of prenatal diagnosis for 67 pedigrees affected with Duchenne muscular dystrophy in the central plain region of China].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-07-10 | PMID 35810418
Gao Zhi, Liu Lina, Wang Yanli and 3 more
[Genotypic and hematological characteristics of 83 β-thalassemia mutation carriers and patients from Henan Province].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-07-10 | PMID 35810419
Wang Weilin, Zhao Xiaoming, Bai Songting and 5 more
[Analysis of the molecular pathogenesis of hereditary protein C deficiency due to a p.Gly86Asp variant of the PROC gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-07-10 | PMID 35810421
Jiang Shuting, Wang Huanhuan, Liu Meina and 5 more
Genes: PC, PROC
[Genetic analysis of two Chinese families with maple syrup urine disease].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-07-10 | PMID 35810422
Zhang Chuan, Feng Xuan, Yao Liguo and 7 more
Genes: BCKDHB
[Differential diagnosis of a Chinese pedigree with methylmalonic acidemia by next-generation sequencing].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-07-10 | PMID 35810423
Zhao Ganye, Chen Chen, Zhao Xuechao and 3 more
[Genetic and prenatal diagnosis of a Chinese pedigree with autosomal recessive Wolfram syndrome 1 due to compound heterozygous variants of WFS1 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-07-10 | PMID 35810424
Kang Hongfei, Yang Kai, Kong Xiangdong
[Analysis of phenotype and genetic variant in a family with Shprintzen-Goldberg syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-07-10 | PMID 35810425
Shi Jiamin, Sun Junhui, Chen Yuan and 4 more
Genes: SKI
[Analysis of genetic variant in a Chinese pedigree with hereditary factor VIII deficiency].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-07-10 | PMID 35810426
Xie Haixiao, Yang Lihong, Xia Huinan and 5 more
[Analysis of GCH1 gene variant in a consanguineous Chinese pedigree affected with tetrahydrobiopterin deficiency].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-07-10 | PMID 35810427
Li Xiaole, Zhu Dengna, Liu Suna and 5 more
[Analysis of clinical features and FKTN gene variant in a child with congenital muscular dystrophy].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-07-10 | PMID 35810429
Zhang Yuxin, Xia Yanjie, Wu Qinghua and 3 more
[Genetic analysis of a Chinese patient with congenital disorders of glycosylation-If].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-07-10 | PMID 35810431
Zhang Hua, Zhang Fuqing, Liu Min and 1 more
[Ultrasonographic manifestation and genetic analysis of a fetus with Stickler syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-07-10 | PMID 35810432
Fang Xiaohua, Zhu Chaofeng, Kong Xiangdong and 1 more
Genes: COL2A1
[Clinical features and genetic variants of a case with carnitine palmitoyltransferase 1A deficiency].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-07-10 | PMID 35810433
Hong Dongyang, Wang Yanyun, Sun Yun and 3 more
[Analysis of a child with severe combined immunodeficiency due to variants of DCLRE1C gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-07-10 | PMID 35810434
Xu Xiaowei, Yan Dandan, Yin Jing and 3 more
Genes: DCLRE1C
[Analysis of PRX gene variants in a child with Charcot-Marie-Tooth disease type 4F].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-07-10 | PMID 35810435
Yang Yanan, Ye Shuxin, Lyu Yuqiang and 6 more
[Genetic analysis of novel MKKS variants in a Chinese patient with Bardet-Biedl syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-07-10 | PMID 35810436
Li Hao, Hu Zhangxue
[Oocyte maturation arrest due to compound heterozygous variants of the PATL2 gene in a case].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-07-10 | PMID 35810437
Lei Qinghua, Li Jiufeng, Zhou Xianqiong and 1 more
[Genetic analysis of a child with XYY syndrome in conjunct with 3-methylglutaenedioic aciduria type I].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-07-10 | PMID 35810438
Zhang Xinli, Shen Guosong, Pan Liming and 2 more
[Identification of a variant Bw37 allele of the ABO gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-07-10 | PMID 35810441
Yuan Wenjing, Chen Qianqian, Lin Jiajin