Patient reported quality of life in limb girdle muscular dystrophy.
Neuromuscular disorders : NMD | 2022-01-01 | PMID 34961728
Kovalchick Laurel V, Bates Kameron, Statland Jeffrey and 8 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 8795 of 10600
ESR1 hotspot mutations in endometrial stromal sarcoma with high-grade transformation and endocrine treatment.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc | 2022-07-01 | PMID 34961764
Dessources Kimberly, Miller Kathryn M, Kertowidjojo Elizabeth and 12 more
Detection and Genotyping of Francisella tularensis in Animal Hosts and Vectors from Six Different Natural Landscape Areas, Gansu Province, China.
Computational and mathematical methods in medicine | 2021-01-01 | PMID 34961822
Zhang Fang, Wang Xiaoheng, Yu Guowei and 3 more
The deleterious impact of a non-synonymous SNP on protein structure and function is apparent in hypertension.
Journal of molecular modeling | 2021-12-27 | PMID 34961886
Sharma Kavita, Hema Kanipakam, Bhatraju Naveen Kumar and 5 more
The molecular landscape of progressive familial intrahepatic cholestasis in Turkey: Defining the molecular profiles and expanding the variant spectrum.
Annals of human genetics | 2022-05-01 | PMID 34961929
Bakır Abdullatif, Topçu Vehap, Çavdarlı Büşranur
Mutations associated with epileptic encephalopathy modify EAAT2 anion channel function.
Epilepsia | 2022-02-01 | PMID 34961934
Kovermann Peter, Kolobkova Yulia, Franzen Arne and 1 more
Analysis of rs1864182 and rs1864183 variants in ATG10 gene and antineutrophil cytoplasmic autoantibody-associated vasculitis in Chinese Guangxi population.
Journal of clinical laboratory analysis | 2022-02-01 | PMID 34961976
Huang Shanshan, Rao Jinlan, Wei Jingsi and 4 more
Functionally impaired RPL8 variants associated with Diamond-Blackfan anemia and a Diamond-Blackfan anemia-like phenotype.
Human mutation | 2022-03-01 | PMID 34961992
Lebaron Simon, O'Donohue Marie-Françoise, Smith Scott C and 6 more
Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations.
Congenital anomalies | 2022-03-01 | PMID 34962003
Elhossini Rasha Moheb, Abdel-Hamid Mohamed S, Ashaat Engy and 5 more
Next-generation sequencing of endoscopically obtained tissues from patients with all stages of pancreatic cancer.
Cancer science | 2022-03-01 | PMID 34962016
Takano Shinichi, Fukasawa Mitsuharu, Shindo Hiroko and 10 more
Prognostic biomarker study in patients with clinical stage I esophageal squamous cell carcinoma: JCOG0502-A1.
Cancer science | 2022-03-01 | PMID 34962019
Oshima Kotoe, Kato Ken, Ito Yoshinori and 19 more
Combined targeting of EGFR and BRAF triggers regression of osimertinib resistance by using osimertinib and vemurafenib concurrently in a patient with heterogeneity between different lesions.
Thoracic cancer | 2022-02-01 | PMID 34962076
Sun Mengyao, Wang Xu, Xu Yinghui and 6 more
Spatial-temporal distribution and sequence diversity of group a human respiratory syncytial viruses in Kenya preceding the emergence of ON1 genotype.
Influenza and other respiratory viruses | 2022-05-01 | PMID 34962085
Wangui Julia, Nokes D James, Mobegi Victor A and 4 more
The novel HLA-DRB1*12:02:11 allele identified by next-generation sequencing in a Chinese bone marrow donor.
HLA | 2022-04-01 | PMID 34962089
He Yi Zhen, Fu Rui, Zhang Wei and 2 more
V101I and R81T mutations in the nicotinic acetylcholine receptor β1 subunit are associated with neonicotinoid resistance in Myzus persicae.
Pest management science | 2022-04-01 | PMID 34962090
Xu Xiao, Ding Qian, Wang Xiu and 4 more
PNPLA3 rs 738409 and Other Nongenetic Factors Associated with Hepatic Steatosis Estimated by Magnetic Resonance Imaging Proton Density Fat Fraction in Adult Greek Subjects with Type 2 Diabetes Mellitus.
Metabolic syndrome and related disorders | 2022-03-01 | PMID 34962148
Meritsi Angeliki, Manesis Emanuel, Koussis Panagiotis and 7 more
Detection of minor variants in Mycobacterium tuberculosis whole genome sequencing data.
Briefings in bioinformatics | 2022-01-17 | PMID 34962257
Goossens Sander N, Heupink Tim H, De Vos Elise and 4 more
Transcriptome-wide association study identifies multiple genes and pathways associated with thyroid function.
Human molecular genetics | 2022-06-04 | PMID 34962261
Ke Xin, Tian Xin, Yao Shi and 8 more
SAT: a Surrogate-Assisted Two-wave case boosting sampling method, with application to EHR-based association studies.
Journal of the American Medical Informatics Association : JAMIA | 2022-04-13 | PMID 34962283
Liu Xiaokang, Chubak Jessica, Hubbard Rebecca A and 1 more
An Allelic Variant of the Broad-Spectrum Blast Resistance Gene Ptr in Weedy Rice Is Associated with Resistance to the Most Virulent Blast Race IB-33.
Plant disease | 2022-06-01 | PMID 34962412
Zhao Haijun, Liu Yan, Jia Melissa H and 1 more
HRCT quantitative analysis of airway remodeling and airway trapping in the small airway asthma phenotype and its correlation with pulmonary function.
The Journal of asthma : official journal of the Association for the Care of Asthma | 2023-01-01 | PMID 34962447
Lu Dongzhu, Yu Qing, Chen Lichang and 9 more
Rhodopsin as a Molecular Target to Mitigate Retinitis Pigmentosa.
Advances in experimental medicine and biology | 2022-01-01 | PMID 34962636
Ortega Joseph T, Jastrzebska Beata
The role of the protein tyrosine phosphatase SHP2 in ossification.
Developmental dynamics : an official publication of the American Association of Anatomists | 2022-05-01 | PMID 34962674
Zhang Yuan, Lu Wei, Zhao Qing and 3 more
Characterization of the novel HLA-DRB1*13:320 allele by next-generation sequencing.
HLA | 2022-04-01 | PMID 34962709
Lee Nan Young, Cho Jang Hee, Won Dong Il
Combining molecular testing and the Bethesda category III:VI ratio for thyroid fine-needle aspirates: A quality-assurance metric for evaluating diagnostic performance in a cytopathology laboratory.
Cancer cytopathology | 2022-04-01 | PMID 34962713
Gokozan Hamza N, Dilcher Thomas L, Alperstein Susan A and 11 more
[Erdheim-Chester disease: a rare histiocytosis with outstanding response to cobimetinib.]
Revista de la Facultad de Ciencias Medicas (Cordoba, Argentina) | 2021-12-28 | PMID 34962740
Sosa Gabriela Alejandra, Dogliani Patricia, Guidi Andrés Emilio and 3 more
[Update on mechanisms of pituitary tumorigenesis.]
Revista de la Facultad de Ciencias Medicas (Cordoba, Argentina) | 2021-12-28 | PMID 34962746
Cecenarro Laura Anahi, Moyano Crespo Gabriela Deisi, Mukdsi Jorge Humberto
Pathogenicity Prediction of Single Amino Acid Variants With Machine Learning Model Based on Protein Structural Energies.
IEEE/ACM transactions on computational biology and bioinformatics | 2000-01-01 | PMID 34962874
Wu Tzu-Hsuan, Lin Peng-Chan, Chou Hsin-Hung and 2 more
c-Jun N-terminal kinase (JNK) signaling contributes to cystic burden in polycystic kidney disease.
PLoS genetics | 2021-12-01 | PMID 34962918
Smith Abigail O, Jonassen Julie A, Preval Kenley M and 2 more
Genetic diversity of Leptospira isolates in Lao PDR and genome analysis of an outbreak strain.
PLoS neglected tropical diseases | 2021-12-01 | PMID 34962921
Grillová Linda, Robinson Matthew T, Chanthongthip Anisone and 15 more
Genetic diversity, viability and conservation value of the global captive population of the Moroccan Royal lions.
PloS one | 2021-01-01 | PMID 34962925
Lehocká Kristina, Black Simon A, Harland Adrian and 3 more
Molecular and epidemiological characterization of recurrent Mycobacterium ulcerans infections in Benin.
PLoS neglected tropical diseases | 2021-12-01 | PMID 34962930
Gnimavo Ronald, Besnard Alban, Degnonvi Horace and 7 more
Development of hepatocellular carcinoma from various phases of chronic hepatitis B virus infection.
PloS one | 2021-01-01 | PMID 34962955
Suzuki Takanori, Matsuura Kentaro, Nagura Yoshihito and 6 more
Elevated serum expression of p53 and association of TP53 codon 72 polymorphisms with risk of cervical cancer in Bangladeshi women.
PloS one | 2021-01-01 | PMID 34962972
Mostaid Md Shaki, Mumu Sadia Biswas, Haque Md Aminul and 4 more
Phenotypic and genetic analyses of two Campylobacter fetus isolates from a patient with relapsed prosthetic valve endocarditis.
Pathogens and disease | 2022-01-07 | PMID 34962980
Lynch Caoimhe T, Buttimer Colin, Epping Lennard and 9 more
Clonal Hematopoiesis-Associated Gene Mutations in a Clinical Cohort of 448 Patients With Ovarian Cancer.
Journal of the National Cancer Institute | 2022-04-11 | PMID 34963005
Weber-Lassalle Konstantin, Ernst Corinna, Reuss Alexander and 19 more
Genes: PPM1D, TP53, ASXL1, BRCA1, DNMT3A, GNAS, JAK2, SF3B1
EMSY inhibits homologous recombination repair and the interferon response, promoting lung cancer immune evasion.
Cell | 2022-01-06 | PMID 34963055
Marzio Antonio, Kurz Emma, Sahni Jennifer M and 10 more
Mutations in PB2 and HA are crucial for the increased virulence and transmissibility of H1N1 swine influenza virus in mammalian models.
Veterinary microbiology | 2022-02-01 | PMID 34963076
Hu Junyi, Hu Zhe, Wei Yandi and 7 more
SARS-CoV-2 variant detection with ADSSpike.
Diagnostic microbiology and infectious disease | 2022-03-01 | PMID 34963097
Castañeda-Mogollón Daniel, Kamaliddin Claire, Fine Laura and 2 more
Monogenic Forms of DSD: An Update.
Hormone research in paediatrics | 2023-01-01 | PMID 34963118
McElreavey Kenneth, Bashamboo Anu
A mutation modulating DDX3Y gene expression cosegregates with the major Y-chromosomal haplogroups and with testis size in Hu sheep.
Animal genetics | 2022-04-01 | PMID 34963194
Zhang Xueying, Liao Zhi, Tang Shijie and 3 more
Forensic DNA phenotyping: Canis familiaris breed classification and skeletal phenotype prediction using functionally significant skeletal SNPs and indels.
Animal genetics | 2022-06-01 | PMID 34963196
Raymond Patrick W, Velie Brandon D, Wade Claire M
[Clinical genetic analysis and diagnosis of a family with hereditary hemorrhagic telangiectasia].
Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery | 2021-12-07 | PMID 34963219
Song X Y, Yang Y J, Yao Y and 2 more
Heterologous production of active form of beta-lytic protease by Bacillus subtilis and improvement of staphylolytic activity by protein engineering.
Microbial cell factories | 2021-12-28 | PMID 34963446
Hioki Takahiro, Yamashita Daichi, Tohata Masatoshi and 3 more
Implementation of molecular matching in transplantation requires further characterization of both immunogenicity and antigenicity of individual HLA epitopes.
Human immunology | 2022-03-01 | PMID 34963506
Bezstarosti Suzanne, Kramer Cynthia S M, Claas Frans H J and 3 more
Non-additive gene interactions underpin molecular and phenotypic responses in honey bee larvae exposed to imidacloprid and thymol.
The Science of the total environment | 2022-03-25 | PMID 34963587
Paten Amy M, Colin Théotime, Coppin Chris W and 4 more
A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.
Genome research | 2022-01-01 | PMID 34963661
Chen Siwei, Liu Yuan, Zhang Yingying and 4 more
Meta-analysis of human and mouse ALS astrocytes reveals multi-omic signatures of inflammatory reactive states.
Genome research | 2022-01-01 | PMID 34963663
Ziff Oliver J, Clarke Benjamin E, Taha Doaa M and 3 more
Assessing the influence of the amount of reachable habitat on genetic structure using landscape and genetic graphs.
Heredity | 2022-02-01 | PMID 34963701
Savary Paul, Foltête Jean-Christophe, van Strien Maarten J and 3 more
BRCA1 and BRCA2 pathogenic variants and prostate cancer risk: systematic review and meta-analysis.
British journal of cancer | 2022-04-01 | PMID 34963702
Nyberg Tommy, Tischkowitz Marc, Antoniou Antonis C
Immune biomarkers and response to checkpoint inhibition of BRAFV600 and BRAF non-V600 altered lung cancers.
British journal of cancer | 2022-04-01 | PMID 34963703
Murciano-Goroff Yonina R, Pak Terry, Mondaca Sebastian and 21 more
Identification of Genetic Risk Factors for Familial Urinary Bladder Cancer: An Exome Sequencing Study.
JCO precision oncology | 2021-01-01 | PMID 34964002
Pemov Alexander, Wegman-Ostrosky Talia, Kim Jung and 19 more
Germline Sequencing Improves Tumor-Only Sequencing Interpretation in a Precision Genomic Study of Patients With Pediatric Solid Tumor.
JCO precision oncology | 2021-01-01 | PMID 34964003
Schienda Jaclyn, Church Alanna J, Corson Laura B and 26 more
Peroxidasin Enhances Basal Phenotype and Inhibits Branching Morphogenesis in Breast Epithelial Progenitor Cell Line D492.
Journal of mammary gland biology and neoplasia | 2021-12-01 | PMID 34964086
Sigurdardottir Anna Karen, Jonasdottir Arna Steinunn, Asbjarnarson Arni and 3 more
A splice site mutation in the TSEN2 causes a new syndrome with craniofacial and central nervous system malformations, and atypical hemolytic uremic syndrome.
Clinical genetics | 2022-03-01 | PMID 34964109
Canpolat Nur, Liu Dingxiao, Atayar Emine and 17 more
Prognostic value and predictive biomarkers of phenotypes of tumour-associated macrophages in colorectal cancer.
Scandinavian journal of immunology | 2022-04-01 | PMID 34964155
Kou Yu, Li Zhuoqun, Sun Qidi and 8 more
Prognostic impact of circulating tumor cells detected with the microfluidic "universal CTC-chip" for primary lung cancer.
Cancer science | 2022-03-01 | PMID 34964211
Kanayama Masatoshi, Kuwata Taiji, Mori Masataka and 11 more
Effectiveness of alectinib and osimertinib in a brain metastasized lung adenocarcinoma patient with concurrent EGFR mutations and DCTN1-ALK fusion.
Thoracic cancer | 2022-02-01 | PMID 34964276
Yin Qiang, Guo Taiyan, Zhou Yangyang and 4 more
Hypoxia promotes the tolerogenic phenotype of plasmacytoid dendritic cells in head and neck squamous cell carcinoma.
Cancer medicine | 2022-02-01 | PMID 34964283
Fan Cui, Wu Jichang, Shen Yilin and 5 more
The CCAAT-binding complex mediates azole susceptibility of Aspergillus fumigatus by suppressing SrbA expression and cleavage.
MicrobiologyOpen | 2021-11-01 | PMID 34964293
Zhang Chi, Gao Lu, Ren Yiran and 3 more
Blood group discrepancy in Ah para-Bombay phenotype: a rare blood group variant and its clinical significance.
Immunohematology | 2021-01-01 | PMID 34964314
Bhagavathi M S, Das N, Prakash S and 3 more
New ABO intron 1 variant alleles.
Immunohematology | 2021-01-01 | PMID 34964317
Fennell K, Keller M A, Villa M A and 14 more
Identification of RHD allelic variants discovered by atypical typing results on the NEO/Echo platforms.
Immunohematology | 2021-01-01 | PMID 34964318
Hudgins J P, Matsushita C, Tuma C W and 2 more
Prevalence of major blood group antigens in blood donors at a main donation center in United Arab Emirates.
Immunohematology | 2021-01-01 | PMID 34964319
Sajwani F H, Amer A M, Khamis F M and 1 more
Single-Cell Digital Microfluidic Mass Spectrometry Platform for Efficient and Multiplex Genotyping of Circulating Tumor Cells.
Analytical chemistry | 2022-01-18 | PMID 34964350
Ruan Qingyu, Yang Jian, Zou Fenxiang and 10 more
Brain myelin water fraction is associated with APOE4 allele status in patients with cognitive impairment.
Journal of neuroimaging : official journal of the American Society of Neuroimaging | 2022-05-01 | PMID 34964524
Park Mina, Lee Hong Pyo, Kim Junghyeob and 3 more
Social participation is reduced in type 3 Von Willebrand disease patients and in patients with a severe bleeding phenotype.
Haemophilia : the official journal of the World Federation of Hemophilia | 2022-03-01 | PMID 34964530
Kempers Eva K, van Kwawegen Calvin B, de Meris Joke and 9 more
A Leigh syndrome caused by compound heterozygous mutations on NDUFAF5 induce early infant death: A case report.
Molecular genetics & genomic medicine | 2022-01-01 | PMID 34964562
Wen Yan, Lu Guoyan, Qiao Lina and 1 more
IL1RL1 single nucleotide polymorphisms are associated with asthma in the Iranian population.
Monaldi archives for chest disease = Archivio Monaldi per le malattie del torace | 2021-12-28 | PMID 34964571
Ranjbar Maral, Matloubi Mojdeh, Sadegh Shaghayegh and 3 more
Engineering of the Ligand Specificity of Transcriptional Regulator XylS by Deep Mutational Scanning.
ACS synthetic biology | 2022-01-21 | PMID 34964613
Ogawa Yuki, Katsuyama Yohei, Ohnishi Yasuo
C1q/tumor necrosis factor related protein 6 (CTRP6) regulates the phenotypes of high glucose-induced gestational trophoblast cells via peroxisome proliferator-activated receptor gamma (PPARγ) signaling.
Bioengineered | 2022-01-01 | PMID 34964705
Zhang Jin, Bai Wen-Pei
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males.
Autophagy | 2022-07-01 | PMID 34964709
Croci Susanna, Venneri Mary Anna, Mantovani Stefania and 30 more
Familial hemophagocytic lymphohistiocytosis in a neonate: Case report and literature review.
Medicine | 2021-11-24 | PMID 34964741
Yang Yue, Luo Zebin, Yuan Tianming
A novel compound heterozygous COL4A4 mutation in a Chinese family with Alport syndrome: A care case report.
Medicine | 2021-11-24 | PMID 34964757
Chen Ji-Yu, Cui Jing-Jing, Yang Xi-Ran and 5 more
Identification of FOXG1 mutations in infantile hypotonia and postnatal microcephaly.
Medicine | 2021-11-24 | PMID 34964776
Jang Han Na, Kim Taeho, Jung Ah Young and 3 more
The role of p.Val444Ala variant in the ABCB11 gene and susceptibility to biliary atresia in Vietnamese patients.
Medicine | 2021-11-24 | PMID 34964797
Van Tung Nguyen, Lien Nguyen Thi Kim, Lan Nguyen Ngoc and 4 more
The first comprehensive database of germline pathogenic variants in East Asian cancer patients.
Database : the journal of biological databases and curation | 2021-12-29 | PMID 34964846
Shi Xiaoshun, Li Ruidong, Zhai Jianxue and 13 more
β-Carotene Oxygenase 2 Genotype Modulates the Impact of Dietary Lycopene on Gene Expression during Early TRAMP Prostate Carcinogenesis.
The Journal of nutrition | 2022-04-01 | PMID 34964896
Moran Nancy E, Thomas-Ahner Jennifer M, Smith Joshua W and 4 more
[The value of combined detection of HbA2 and HbF for the screening of thalassemia among individuals of childbearing ages].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-01-10 | PMID 34964959
Zhuang Qianmei, Wang Geng, Wang Yuanbai and 4 more
[Clinical characteristics and genetic analysis of a Chinese pedigree affected with mitochondrial DNA depletion syndrome due to compound heterozygous variants of RRM2B gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-01-10 | PMID 34964961
Wang Yanhong, Zheng Xuan, Wang Xiangdie and 4 more
[Analysis of RECQL4 gene variant in a child with Rothmund-Thomson syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-01-10 | PMID 34964962
Wu Qiuping, Weng Weiqi, Yuan Jinna and 5 more
[Clinical characteristics and genetic analysis of an ethnic Han Chinese child with Keppen-Lubinsky syndrome due to a de novo KCNJ6 mutation].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-01-10 | PMID 34964963
Gao Jian, Wang Juanjuan, Han Yanping and 4 more
[Analysis of GCDH gene variant in a child with Glutaric aciduria type I].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-01-10 | PMID 34964964
Yin Hanjun, Xue Qiong, Zhu Suyue
[Analysis of clinical features and pathogenic variants in a Chinese pedigree affected with congenital glycosylation disease].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-01-10 | PMID 34964965
Fan Rui, Lu Honghua, Lu Feiyu and 4 more
[Clinical features and genetic analysis of a case with Perlman syndrome due to variant of DIS3L2 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-01-10 | PMID 34964966
Chen Jing, Hu Chunhui, Ren Lanfen and 4 more
[Analysis of C2ORF71 gene variant in a Chinese patient with retinitis pigmentosa].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-01-10 | PMID 34964967
Liu Man, Lu Yilu, Ma Yongxin
[Analysis of OCRL gene variant in a Chinese pedigree affected with Lowe syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-01-10 | PMID 34964968
Zhou Xinlong, Wang Qingming, Zou Sini and 2 more
[Clinical features and genetic analysis of a Chinese pedigree affected with X-linked adrenoleukodystrophy].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-01-10 | PMID 34964969
Kong Lingen, Qiu Jinhua, Li Caiming and 5 more
[Analysis of a Chinese pedigree affected with dyschromatosis symmetrica hereditaria due to a novel variant of ADAR gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-01-10 | PMID 34964970
Yang Ke, Hou Qiaofang, Zhang Yuwei and 5 more
[Analysis of a patient with tuberous sclerosis complex due to mosaicism TSC2 mutation].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-01-10 | PMID 34964971
Liu Weiliang, Li Fang, He Zhixu and 1 more
[Analysis of a patient with severe Hemophilia A due to a large duplication of F8 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-01-10 | PMID 34964972
Wang Wen, Cui Dongyan, Jiang Lijuan and 3 more
[Genetic analysis of a case with 2q37 microdeletion syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-01-10 | PMID 34964974
Lian Xiaohui, Zhang Xiao, Huang Mingyan and 2 more
[Identification of a novel FUT1 allele in a Chinese individual featuring para-Bombay phenotype].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-01-10 | PMID 34964976
Li Qiang, Xiang Kaihua, Liu Chunhua and 4 more
Characterization of the novel HLA-A*01:405 allele by two next generation sequencing methods.
HLA | 2022-04-01 | PMID 34965025
Walencik Alexandre, Calvo De Olmos Orane, Bonneville Francoise and 2 more
Worldwide prevalence, genotype distribution and management of hepatitis C.
Acta gastro-enterologica Belgica | 2000-01-01 | PMID 34965046
Guntipalli P, Pakala R, Kumari Gara S and 12 more
[Analysis of associations of undifferentiated connective tissue dysplasia with the development of primary open-angle glaucoma. Clinical and genetic aspects].
Vestnik oftalmologii | 2021-01-01 | PMID 34965071
Zhuravleva A N, Satybaldyev A M, Zinchenko R A and 2 more
A case of V180I genetic mutation Creutzfeldt Jakob disease (CJD) with delusional misidentification as an initial symptom.
Prion | 2022-12-01 | PMID 34965177
Nagata Tomoyuki, Shinagawa Shunichiro, Kobayashi Nobuyuki and 2 more
Loss-of-function SLC30A2 mutants are associated with gut dysbiosis and alterations in intestinal gene expression in preterm infants.
Gut microbes | 2000-01-01 | PMID 34965180
Kelleher Shannon L, Alam Samina, Rivera Olivia C and 7 more
Autophagy mediates ER stress and inflammation in Helicobacter pylori-related gastric cancer.
Gut microbes | 2000-01-01 | PMID 34965181
Mommersteeg M C, Simovic I, Yu B and 8 more
Patient-derived iPSCs link elevated mitochondrial respiratory complex I function to osteosarcoma in Rothmund-Thomson syndrome.
PLoS genetics | 2021-12-01 | PMID 34965247
Jewell Brittany E, Xu An, Zhu Dandan and 26 more