Focal Dermal Hypoplasia with Osteopathia Striata.
Medical archives (Sarajevo, Bosnia and Herzegovina) | 2022-08-01 | PMID 36313953
Almashaqbeh Shefa S, Aljammal Diana S, Alharahsheh Hend M and 2 more
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 9032 of 10600
Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot-Marie-Tooth disease 4H.
Brain : a journal of neurology | 2023-05-02 | PMID 36314052
El-Bazzal Lara, Ghata Adeline, Estève Clothilde and 14 more
Effect on the conformations of the spike protein of SARS-CoV-2 due to mutation.
Biotechnology and applied biochemistry | 2023-06-01 | PMID 36314068
Gupta Aayatti Mallick, Chakrabarti Jaydeb
Association between single nucleotide polymorphism SLCO1B1 gene and simvastatin pleiotropic effects measured through flow-mediated dilation endothelial function parameters.
Therapeutic advances in cardiovascular disease | 2000-01-01 | PMID 36314075
Andrianto, Puspitasari Mia, Ardiana Meity and 4 more
PIK3CA Mutational Analysis in Patients With Macrodactyly.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society | 2000-01-01 | PMID 36314082
Becker Jakob, Gross Ulrike Camenisch, Weber Daniel M and 4 more
Data Mining Framework for Discovering and Clustering Phenotypes of Atypical Diabetes.
The Journal of clinical endocrinology and metabolism | 2023-03-10 | PMID 36314086
Parikh Hemang M, Remedios Cassandra L, Hampe Christiane S and 7 more
Impact of ABCB1, ABCC1, ABCC2, and ABCG2 variants in predicting prognosis and clinical outcomes of north Indian lung cancer patients undergoing platinum-based doublet chemotherapy.
The journal of gene medicine | 2023-01-01 | PMID 36314103
Sharma Parul, Singh Navneet, Sharma Siddharth
Identification of the novel HLA-B*46:01:33 allele by next generation sequencing in a Chinese individual.
HLA | 2023-02-01 | PMID 36314108
Zou Hong-Yan, Zhong Yan-Ping, Deng Zhi-Hui
Association between Common Variants in VEGFA Gene and the Susceptibility of Primary Knee Osteoarthritis.
Cartilage | 2022-12-01 | PMID 36314121
Saetan Natthaphon, Honsawek Sittisak, Tanavalee Aree and 3 more
Alpha 2-Heremans-Schmid glycoprotein gene polymorphism (rs4918) is associated with coronary artery calcification in incident peritoneal dialysis patients.
Nephrology (Carlton, Vic.) | 2023-01-01 | PMID 36314193
Dai Shuqi, Chen Yun, Shang Da and 4 more
Mixed Pathologies in a Subject with a Novel PSEN1 G206R Mutation.
Journal of Alzheimer's disease : JAD | 2022-01-01 | PMID 36314207
Libard Sylwia, Giedraitis Vilmantas, Kilander Lena and 2 more
The CCL2 rs4586 SNP Is Associated with Slower Amyloid-β Deposition and Faster Tau Accumulation of Alzheimer's Disease.
Journal of Alzheimer's disease : JAD | 2022-01-01 | PMID 36314210
Gao Fan, Zhang Peng-Fei, Gao Jing and 2 more
A Heterozygous Mutation in MFF Associated with a Mild Mitochondrial Phenotype.
Journal of neuromuscular diseases | 2023-01-01 | PMID 36314214
Murata Daisuke, Grunseich Christopher, Iijima Miho and 6 more
Genes: MFF
Association between TP73 G4C14-A4T14 polymorphism and different cancer types: an updated meta-analysis of 55 case-control studies.
The Journal of international medical research | 2022-10-01 | PMID 36314251
Jafrin Sarah, Aziz Md Abdul, Islam Mohammad Safiqul
An in silico analysis of the impact of POLE mutations on cladribine docking.
European review for medical and pharmacological sciences | 2022-10-01 | PMID 36314330
Loganathan L, Al-Haidose A, Ganesh Kumar A and 7 more
First-line treatment and overall survival in EGFR mutation-positive advanced non-small cell lung cancer: a national cohort study.
European review for medical and pharmacological sciences | 2022-10-01 | PMID 36314347
Huang L-Y, Chang H-P, Chang R-Y and 3 more
Exome sequencing identified five novel USH2A variants in Korean patients with retinitis pigmentosa.
Ophthalmic genetics | 2023-04-01 | PMID 36314366
Jung SeungHee, Park Young Chan, Lee DongHee and 7 more
Clinical heterogeneity in a family with flail arm syndrome and review of hnRNPA1-related spectrum.
Annals of clinical and translational neurology | 2022-12-01 | PMID 36314424
Han Xiaochen, Zhan Feixia, Yao Yuxin and 3 more
Disseminated papular variant of Dowling-Degos disease: Histopathological features in POGLUT1 mutation.
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG | 2022-11-01 | PMID 36314591
Papadopoulou Katharina, Karsai Syrus, Böer-Auer Almut
Pseudohypoxia in paraganglioma and pheochromocytoma is associated with an immunosuppressive phenotype.
The Journal of pathology | 2023-01-01 | PMID 36314599
Celada Lucía, Cubiella Tamara, San-Juan-Guardado Jaime and 13 more
Outcome of elexacaftor/tezacaftor/ivacaftor therapy in patients with cystic fibrosis and solid organ transplantation.
Pediatric pulmonology | 2023-02-01 | PMID 36314653
Ørum Matilde B, Rönsholt Frederikke F, Jeppesen Majbritt and 7 more
Use of In Vivo Imaging to Screen for Morphogenesis Phenotypes in Candida albicans Mutant Strains During Active Infection in a Mammalian Host.
Journal of visualized experiments : JoVE | 2022-10-12 | PMID 36314794
Wakade Rohan S, Krysan Damian J, Wellington Melanie
Optimized Method for Bacterial Nucleic Acid Extraction from Positive Blood Culture Broth for Whole-Genome Sequencing, Resistance Phenotype Prediction, and Downstream Molecular Applications.
Journal of clinical microbiology | 2022-11-16 | PMID 36314799
Bauer Michelle J, Peri Anna Maria, Lüftinger Lukas and 9 more
Exploring Caspase Mutations and Post-Translational Modification by Molecular Modeling Approaches.
Journal of visualized experiments : JoVE | 2022-10-13 | PMID 36314804
Nilov Dmitry K, Zamaraev Alexey V, Zhivotovsky Boris and 1 more
Polymorphisms in glucose homeostasis genes are associated with cardiovascular and renal parameters in patients with diabetic nephropathy.
Annals of medicine | 2022-12-01 | PMID 36314849
Mota-Zamorano Sonia, González Luz M, Robles Nicolás R and 4 more
It is time to move on from homology in comparative biology.
Journal of morphology | 2023-01-01 | PMID 36314971
Cracraft Joel
Serum Proteomic Analysis for New Types of Long-Term Persistent COVID-19 Patients in Wuhan.
Microbiology spectrum | 2022-12-21 | PMID 36314975
Li Cuidan, Yue Liya, Ju Yingjiao and 13 more
Community assembly history alters relationships between biodiversity and ecosystem functions during restoration.
Ecology | 2023-02-01 | PMID 36315030
Catano Christopher P, Groves Anna M, Brudvig Lars A
Tra1 controls the transcriptional landscape of the aging cell.
G3 (Bethesda, Md.) | 2023-01-12 | PMID 36315064
Bari Khaleda Afrin, Berg Matthew D, Genereaux Julie and 2 more
Rat Mammary carcinoma susceptibility 3 (Mcs3) pleiotropy, socioenvironmental interaction, and comparative genomics with orthologous human 15q25.1-25.2.
G3 (Bethesda, Md.) | 2023-01-12 | PMID 36315068
Duderstadt Emily L, Samuelson David J
ConsensuSV-from the whole-genome sequencing data to the complete variant list.
Bioinformatics (Oxford, England) | 2022-12-13 | PMID 36315072
Chiliński Mateusz, Plewczynski Dariusz
k mdiff, large-scale and user-friendly differential k-mer analyses.
Bioinformatics (Oxford, England) | 2022-12-13 | PMID 36315078
Lemane Téo, Chikhi Rayan, Peterlongo Pierre
Somatic inactivation of breast cancer predisposition genes in tumors associated with pathogenic germline variants.
Journal of the National Cancer Institute | 2023-02-08 | PMID 36315097
Lim Belle W X, Li Na, Mahale Sakshi and 12 more
Genes: BARD1, CHEK2, RAD51D, BLM, BRCA1, BRCA2, BRIP1, FANCM
Lack of efficacy of fenbendazole against Giardia duodenalis in a naturally infected population of dogs in France.
Parasite (Paris, France) | 2022-01-01 | PMID 36315102
Kaufmann Hugo, Zenner Lionel, Benabed Slimania and 2 more
The Frequency of Germline BRCA and Non-BRCA HR-Gene-Variants in a Cohort of Pancreatic Cancer Patients.
Digestive diseases and sciences | 2023-04-01 | PMID 36315333
Baz M, Gondran-Teiller V, Bressac B and 23 more
Roles of oncogenes in esophageal squamous cell carcinoma and their therapeutic potentials.
Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico | 2023-03-01 | PMID 36315334
Xiao Shuai, Huang Guo, Zeng Weihong and 6 more
Sotorasib: A Review in KRAS G12C Mutation-Positive Non-small Cell Lung Cancer.
Targeted oncology | 2022-11-01 | PMID 36315377
Lee Arnold
High Genetic Diversity and Gene Flow Detected in Populations of Bombus morio from South Brazil.
Neotropical entomology | 2022-12-01 | PMID 36315395
Beche Manoela, Arnemann Jonas Andre, Silva Jocélia and 9 more
High Yield of B-Side Electron Transfer at 77 K in the Photosynthetic Reaction Center Protein from Rhodobacter sphaeroides.
The journal of physical chemistry. B | 2022-11-10 | PMID 36315401
Magdaong Nikki Cecil M, Faries Kaitlyn M, Buhrmaster James C and 7 more
DGAT1 mutation in two sisters with failure to thrive: a case report.
Archivos argentinos de pediatria | 2023-02-01 | PMID 36315449
Valentini M Agustina, Fedrizzi Valeria A, Krochik Andrea G and 6 more
Hereditary variants of unknown significance in African American women with breast cancer.
PloS one | 2022-01-01 | PMID 36315513
McDonald J Tyson, Ricks-Santi Luisel J
Genetic diversity of whitefly species of the Bemisia tabaci Gennadius (Hemiptera: Aleyrodidae) species complex, associated with vegetable crops in Côte d'Ivoire.
PloS one | 2022-01-01 | PMID 36315574
N'cho Anthelme-Jocelin, Seka Koutoua, Assiri Kouamé Patrice and 9 more
Glucose transporter type 1 deficiency syndrome: clinical aspects, diagnosis, and treatment.
Archivos argentinos de pediatria | 2023-02-01 | PMID 36315575
Veneruzzo Gabriel M, Loos Mariana A, Armeno Marisa and 2 more
Getting higher on rugged landscapes: Inversion mutations open access to fitter adaptive peaks in NK fitness landscapes.
PLoS computational biology | 2022-10-01 | PMID 36315581
Trujillo Leonardo, Banse Paul, Beslon Guillaume
G2Φnet: Relating genotype and biomechanical phenotype of tissues with deep learning.
PLoS computational biology | 2022-10-01 | PMID 36315608
Zhang Enrui, Spronck Bart, Humphrey Jay D and 1 more
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
Brain : a journal of neurology | 2023-05-02 | PMID 36315648
Saffari Afshin, Kellner Melanie, Jordan Catherine and 31 more
Advances and Applications of Polygenic Scores for Coronary Artery Disease.
Annual review of medicine | 2023-01-27 | PMID 36315649
Patel Aniruddh P, Khera Amit V
Interrogating the Roles of Mutation-Selection Balance, Heterozygote Advantage, and Linked Selection in Maintaining Recessive Lethal Variation in Natural Populations.
Annual review of animal biosciences | 2023-02-15 | PMID 36315650
Marion Sarah B, Noor Mohamed A F
First report in Argentina of a pathogenic DMP1 variant associated with autosomal recessive hypophosphatemic rickets.
Archivos argentinos de pediatria | 2023-04-01 | PMID 36315908
Bastida Gabriela, Ramírez Flavia, Exeni Georgina and 2 more
Pertuzumab Plus Trastuzumab in Patients With Colorectal Cancer With ERBB2 Amplification or ERBB2/3 Mutations: Results From the TAPUR Study.
JCO precision oncology | 2022-10-01 | PMID 36315917
Gupta Ranju, Meric-Bernstam Funda, Rothe Michael and 8 more
Rare Germline ATM Variants Influence the Development of Chronic Lymphocytic Leukemia.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2023-02-10 | PMID 36315919
Lampson Benjamin L, Gupta Aditi, Tyekucheva Svitlana and 12 more
Prognostic Value of FLT3-Internal Tandem Duplication Residual Disease in Acute Myeloid Leukemia.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2023-02-01 | PMID 36315929
Grob Tim, Sanders Mathijs A, Vonk Christian M and 14 more
Genetic characterization of Marek's disease virus in chickens in Thailand reveals a high genetic diversity of circulating strains.
Transboundary and emerging diseases | 2022-11-01 | PMID 36315934
Wannaratana Suwarak, Tunterak Wikanda, Prakairungnamthip Duangduean and 2 more
Challenged Urine Bicarbonate Excretion as a Measure of Cystic Fibrosis Transmembrane Conductance Regulator Function in Cystic Fibrosis.
Annals of internal medicine | 2022-11-01 | PMID 36315944
Berg Peder, Sorensen Mads V, Rousing Amalie Quist and 4 more
Reduction of Missed Diagnosis of G6PD Deficiency in Heterozygous Females by G6PD/6PGD Ratio Assay Combined with Amplification Refractory Mutation System PCR.
Human heredity | 2023-01-01 | PMID 36315991
Chen Shiguo, Gao Jian, Wu Qunyan and 7 more
Derivative Chromosome 3 Loss from t(3;6)(q12;q14) Followed by Differential VHL Mutations Underlie Multifocal ccRCC.
Cancer genomics & proteomics | 2000-01-01 | PMID 36316043
Mizutani Kosuke, Yokoi Shigeaki, Sawada Seiya and 11 more
New treatments in spinal muscular atrophy.
Archives of disease in childhood | 2023-07-01 | PMID 36316089
Gowda Vasantha Lakshmi, Fernandez-Garcia Miguel A, Jungbluth Heinz and 1 more
Steroid-Resistant Nephrotic Syndrome-Associated MYO1E Mutations Have Differential Effects on Myosin 1e Localization, Dynamics, and Activity.
Journal of the American Society of Nephrology : JASN | 2022-11-01 | PMID 36316095
Liu Pei-Ju, Gunther Laura K, Garone Michael E and 12 more
Data-Driven Chronic Allograft Phenotypes: A Novel and Validated Complement for Histologic Assessment of Kidney Transplant Biopsies.
Journal of the American Society of Nephrology : JASN | 2022-11-01 | PMID 36316096
Vaulet Thibaut, Divard Gillian, Thaunat Olivier and 17 more
Co-mutation landscape and clinical significance of RAS pathway related gene mutations in patients with myelodysplastic syndrome.
Hematological oncology | 2023-02-01 | PMID 36316121
Ren Yanling, Lang Wei, Mei Chen and 8 more
A phenome-wide investigation of risk factors for severe COVID-19.
Journal of medical virology | 2023-01-01 | PMID 36316288
Baranova Ancha, Cao Hongbao, Teng Shaolei and 1 more
Nrf2 regulates the arginase 1+ microglia phenotype through the initiation of TREM2 transcription, ameliorating depression-like behavior in mice.
Translational psychiatry | 2022-10-31 | PMID 36316319
He Lujuan, Zheng Yi, Huang Lixuan and 7 more
MIR retrotransposons link the epigenome and the transcriptome of coding genes in acute myeloid leukemia.
Nature communications | 2022-10-31 | PMID 36316347
Telonis Aristeidis G, Yang Qin, Huang Hsuan-Ting and 1 more
Hereditary spastic paraplegia SPG13 mutation increases structural stability and ATPase activity of human mitochondrial chaperonin.
Scientific reports | 2022-10-31 | PMID 36316435
Chen Lingling, Syed Aiza, Balaji Adhitya
Interaction between blood pressure and genetic risk score for bladder cancer, and risk of urothelial carcinoma in men.
Scientific reports | 2022-10-31 | PMID 36316463
Teleka Stanley, Orho-Melander Marju, Liedberg Fredrik and 3 more
Mendelian randomization study on the causal effects of systemic lupus erythematosus on major depressive disorder.
Journal of human genetics | 2023-01-01 | PMID 36316471
Li Wenchang, Kan Hoktim, Zhang Weizhe and 4 more
ParseCNV2: efficient sequencing tool for copy number variation genome-wide association studies.
European journal of human genetics : EJHG | 2023-03-01 | PMID 36316489
Glessner Joseph T, Li Jin, Liu Yichuan and 4 more
A within- and across-country assessment of the genomic diversity and autozygosity of South African and eSwatini Nguni cattle.
Tropical animal health and production | 2022-11-01 | PMID 36316504
Lashmar S F, Visser C, Okpeku M and 3 more
B cell phenotype, activity, and function in idiopathic nephrotic syndrome.
Pediatric research | 2023-06-01 | PMID 36316536
Liu Junhan, Guan Fengjun
Targeting RAS mutants in malignancies: successes, failures, and reasons for hope.
Cancer communications (London, England) | 2023-01-01 | PMID 36316602
Yang Hang, Zhou Xinyi, Fu Dongliang and 7 more
A method to obtain exact single-step GBLUP for non-genotyped descendants when the genomic relationship matrix of ancestors is not available.
Genetics, selection, evolution : GSE | 2022-10-31 | PMID 36316629
Garrick Dorian J, Fernando Rohan L
Personalized targeted therapy prescription in colorectal cancer using algorithmic analysis of RNA sequencing data.
BMC cancer | 2022-10-31 | PMID 36316649
Sorokin Maxim, Zolotovskaia Marianna, Nikitin Daniil and 11 more
Suggestive evidence of the genetic association of TMOD1 and PTCSC2 polymorphisms with thyroid carcinoma in the Chinese Han population.
BMC endocrine disorders | 2022-10-31 | PMID 36316666
Tong Kaijun, Zhang Chang, Yang Tingting and 4 more
Association of triglyceride levels and prostate cancer: a Mendelian randomization study.
BMC urology | 2022-10-31 | PMID 36316671
Zhu Shusheng, Hu Xia, Fan Yanpeng
Ganciclovir-induced mutations are present in a diverse spectrum of post-transplant malignancies.
Genome medicine | 2022-10-31 | PMID 36316687
Fang Hu, Yan Helen H N, Bilardi Rebecca A and 18 more
Folliculin-interacting protein FNIP2 impacts on overweight and obesity through a polymorphism in a conserved 3' untranslated region.
Genome biology | 2022-10-31 | PMID 36316722
Fernández Lara P, Deleyto-Seldas Nerea, Colmenarejo Gonzalo and 13 more
Genome-wide DNA methylation analysis of extreme phenotypes in the identification of novel epigenetic modifications in diabetic retinopathy.
Clinical epigenetics | 2022-10-31 | PMID 36316758
Yang Shaopeng, Guo Xiao, Cheng Weijing and 7 more
Potential role of autophagy induced by FLT3-ITD and acid ceramidase in acute myeloid leukemia chemo-resistance: new insights.
Cell communication and signaling : CCS | 2022-10-31 | PMID 36316776
Zalpoor Hamidreza, Bakhtiyari Maryam, Akbari Abdullatif and 7 more
Pharmacogenetics of ABCB1, CDA, DCK, GSTT1, GSTM1 and outcomes in a cohort of pediatric acute myeloid leukemia patients from Colombia.
Cancer reports (Hoboken, N.J.) | 2023-03-01 | PMID 36316809
Yunis Luz K, Linares-Ballesteros Adriana, Aponte Nelson and 6 more
A congenital CSF3R mutation in chronic neutropenia reveals a vital role for a cytokine receptor extracellular hinge motif in the response to granulocyte colony-stimulating factor.
Pediatric blood & cancer | 2023-04-01 | PMID 36316822
Feyen Jacqueline, Ernst Martijn P T, van der Velden Vincent H J and 4 more
Hereditary motor and sensory neuropathy with SOD1-mutant: A case report.
Medicine | 2022-10-28 | PMID 36316849
Luo Zhong, Zhang Linhai, Yang Juan and 2 more
Gene locus polymorphisms and expression levels of interleukin-1 in lumbar disc disease: A MOOSE-compliant meta-analysis and immunohistochemical study.
Medicine | 2022-10-28 | PMID 36316862
Yang Kunxue, Xiao Qianyi, Zhang Ruijun and 4 more
NFKB1 Gene Mutant Was Associated with Prognosis of Coronary Artery Disease and Exacerbated Endothelial Mitochondrial Fission and Dysfunction.
Oxidative medicine and cellular longevity | 2022-01-01 | PMID 36317060
Luo Jun-Yi, Liu Fen, Fang Bin-Bin and 5 more
Genomic Analyses Reveal Association of ASIP with a Recurrently evolving Adaptive Color Pattern in Frogs.
Molecular biology and evolution | 2022-11-03 | PMID 36317199
Goutte Sandra, Hariyani Imtiyaz, Utzinger Kole Deroy and 2 more
[Application value of high-throughput sequencing for the detection of thalassemia in ethnic Li minority areas].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-11-10 | PMID 36317202
Hu Junjie, Chen Xinping, Zhu Juan and 3 more
[Analysis of clinical features and genetic variants in three Chinese pedigrees affected with Limb girdle muscular dystrophy type 2I].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-11-10 | PMID 36317204
Wang Guangyu, Xu Ling, Zhao Dandan and 2 more
[Analysis of two Chinese pedigrees affected with Alport syndrome due to novel variants of COL4A5 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-11-10 | PMID 36317207
Guo Hongjun, Liu Fengxun, Yang Zijun
[Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with Bainbridge-Ropers syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-11-10 | PMID 36317208
Li Jingjing, Xu Jinghan, She Mingcong and 3 more
[Analysis of PROC gene variant in a Chinese pedigree affected with hereditary protein C deficiency].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-11-10 | PMID 36317209
Chen Yuan, Shi Jiamin, Huang Xiaoxia and 6 more
[Clinical characteristics and genetic analysis of a Chinese pedigree affected with tuberous sclerosis complex].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-11-10 | PMID 36317210
Chen Li, Li Gang, Zhang Chen and 2 more
[Analysis of HPRT1 gene variant and prenatal diagnosis for a Chinese pedigree with Lesch-Nyhan syndrome but no specimen from affected probands].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-11-10 | PMID 36317211
Tong Ming, Li Qian, Sun Anping and 2 more
[Analysis of clinical phenotype and genetic variant in a Chinese pedigree affected with cleidocranial dysplasia].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-11-10 | PMID 36317212
Chen Yinhua, Gu Haibin, Tang Genxiong and 1 more
[Analysis of clinical features and genetic variant in a Chinese pedigree affected with familial adenomatous polyposis].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-11-10 | PMID 36317213
Yuan Shuai, Wang Yusi, Sun Wenjing and 2 more
[Analysis of novel compound heterozygous variants of the GJA8 gene in a child with congenital cataract].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-11-10 | PMID 36317215
Li Ruirui, Xu Peiwen, Zou Yang and 2 more
[Analysis of clinical features and EBF3 gene variant in a child with hypotonia, ataxia and developmental delay].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-11-10 | PMID 36317217
Cong Yan, Wang Dong, Wang Hao and 2 more
[Analysis of a patient with Kallmann syndrome and a 45,X/46,XY karyotype].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-11-10 | PMID 36317218
Ma Fuhui, Wang Xinling, Reziwanguli Wusiman and 2 more
[Association of GSTP1 and PLCE1 gene polymorphisms with primary esophageal cancer].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-11-10 | PMID 36317220
Han Wenjie, Li Weiyan, He Zhangbiao
[Para-Bombay phenotype due to bi-allelic heterozygous base deletions of FUT1 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-11-10 | PMID 36317221
He Ziyi, Hu Yingming, Xu Xianguo and 2 more
A Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association | 2024-04-01 | PMID 36317361
Ulhaq Zulvikar Syambani, Soraya Gita Vita, Istifiani Lola Ayu and 12 more
Investigation of Nagashima-type palmoplantar keratoderma in China: A cross-sectional study of 234 patients.
The Journal of dermatology | 2023-03-01 | PMID 36317385
Liu Juan, Chen Zhiming, Hu Linghan and 8 more