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Case Reports in Genetics|May 7, 2025
A Novel NPHP5 Gene Mutation in Three Siblings With Nephronophthisis Without Retinitis Pigmentosa: A Case ReportRandah Abdullah Dahlan, Roaa Hani FairoozyCase Reports in Genetics|April 14, 2025
Optic Nerve Coloboma in a Child With Compound Heterozygous USH2A VariantsEmily S Levine, Nidhi D Shah, Erin M SalconeCase Reports in Genetics|December 24, 2025
MCT8 Deficiency in Two Brothers With a Novel Deletion Mutation in SLC16A2Andrea A Arcari, María Eugenia Rodríguez, Romina Armando, et al.Case Reports in Genetics|September 5, 2022
Rapid Progression of Heterotopic Ossification in Severe Variant of Fibrodysplasia Ossificans Progressiva with p.Arg258Gly in ACVR1: A Case Report and Review of Clinical PhenotypesKosei Hasegawa, Hiroyuki Tanaka, Natsuko Futagawa, et al.Case Reports in Genetics|June 18, 2026
A Case of Malan Syndrome With Pulmonary Artery Dilatation due to a Novel Frameshift Variant in Exon 2 of the NFIX GeneToshihiko Mori, Mayu Hirano, Shigeto Fuse, et al.Pageof 34