Showing results (981-990 of 2,518) with videos related to

Sort By:
Pageof 252
Molecular Genetics & Genomic Medicine|August 22, 2024
APOL1 polymorphisms are not influencing acute coronary syndrome risk in Czech malesJaroslav A Hubacek, Vera Adamkova, Vera Lanska, et al.
Molecular Genetics & Genomic Medicine|June 11, 2024
Mutation spectrum of hearing loss patients in Northwest China: Identification of 20 novel variantsPanpan Ma, Bingbo Zhou, Qichao Kang, et al.
Molecular Genetics & Genomic Medicine|May 28, 2024
Osteomesopyknosis associated with a novel ALOX5 variant that impacts the RANKL pathwayJose L Fernandez-Luna, José L Hernández, Soraya Curiel-Olmo, et al.
Molecular Genetics & Genomic Medicine|May 23, 2024
A new genetic diagnosis strategy for paroxysmal kinesigenic dyskinesia: Targeted high-throughput detection of PRRT2 gene c.649 locusMin Wen, Hui Huang, Fei Huang, et al.
Molecular Genetics & Genomic Medicine|July 5, 2024
A case of inherited glycosylphosphatidylinositol deficiency caused by PGAP3 variant with uniparental isodisomy on chromosome 17Takeo Mukai, Shota Kato, Hiroyuki Tanaka, et al.
Molecular Genetics & Genomic Medicine|July 5, 2024
A compound heterozygote case of glutaric aciduria type II in a patient carrying a novel candidate variant in ETFDH gene: A case report and literature review on compound heterozygote casesMohammad Reza Seyedtaghia, Reza Jafarzadeh-Esfehani, Seyedmojtaba Hosseini, et al.
Molecular Genetics & Genomic Medicine|June 11, 2024
A monoallelic UXS1 variant associated with short-limbed short statureCecilie F Rustad, Paul Hoff Backe, Chunsheng Jin, et al.
Molecular Genetics & Genomic Medicine|June 11, 2024
Social media use by patients with hypermobile Ehlers-Danlos syndromeColin M E Halverson, Tom A Doyle, Samantha Vershaw
Molecular Genetics & Genomic Medicine|June 11, 2024
Loss-of-function polymorphisms in NQO1 are not associated with the development of subacute myelo-optico-neuropathyHideki Matsumoto, Hideo Sasai, Norio Kawamoto, et al.
Molecular Genetics & Genomic Medicine|August 22, 2023
A case report of a novel HIST1H1E mutation and a review of the bibliography to evaluate the genotype-phenotype correlationsWenjing Zhao, Yinhong Zhang, Tao Lv, et al.
Pageof 252