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Human Mutation|October 11, 2019
Systematic quantification of the anion transport function of pendrin (SLC26A4) and its disease-associated variantsKoichiro Wasano, Satoe Takahashi, Samuel K Rosenberg, et al.Human Mutation|June 28, 2019
Contribution to colonic polyposis of recently proposed predisposing genes and assessment of the prevalence of NTHL1- and MSH3-associated polyposesMariona Terradas, Pau M Munoz-Torres, Sami Belhadj, et al.Human Mutation|February 22, 2022
PatientMatcher: A customizable Python-based open-source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange networkChiara Rasi, Daniel Nilsson, Måns Magnusson, et al.Human Mutation|February 10, 2022
DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and researchJulia Foreman, Simon Brent, Daniel Perrett, et al.Human Mutation|February 10, 2022
Diagnosis and follow-up of glycogen storage disease (GSD) type VI from the largest GSD center in ChinaXiaomei Luo, Ying Duan, Di Fang, et al.Human Mutation|February 3, 2022
Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early-onset axonal Charcot-Marie-Tooth diseaseAndrea Gangfuß, Andreas Hentschel, Nina Rademacher, et al.Human Mutation|April 8, 2022
STRipy: A graphical application for enhanced genotyping of pathogenic short tandem repeats in sequencing dataAndreas Halman, Egor Dolzhenko, Alicia OshlackHuman Mutation|March 28, 2022
Phenotypic and mutational spectrum of ROR2-related Robinow syndromeAriadne R Lima, Barbara M Ferreira, Chaofan Zhang, et al.Human Mutation|September 4, 2018
Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlationsDídac Casas-Alba, Antonio Martínez-Monseny, Rosa M Pino-Ramírez, et al.Human Mutation|September 28, 2018
The mutation-dependent pathogenicity of NPHS2 p.R229Q: A guide for clinical assessmentÁgnes Mikó, Dóra K Menyhárd, Ambrus Kaposi, et al.Pageof 574