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Showing results (541-550 of 555) with videos related to

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Medrxiv : the Preprint Server for Health Sciences|June 29, 2026
The clinical utility of functional testing in fibroblasts to diagnose primary mitochondrial diseaseJohan L K Van Hove, Marisa W Friederich, Roxanne A Van Hove, et al.
Annals of Neurology|December 6, 2017
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 casesRoeltje R Maas, Katarzyna Iwanicka-Pronicka, Sema Kalkan Ucar, et al.
American Journal of Human Genetics|February 27, 2018
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic DisorderMonika Oláhová, Wan Hee Yoon, Kyle Thompson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 28, 2022
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variantsGeorg F Vogel, Yael Mozer-Glassberg, Yuval E Landau, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 11, 2020
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorderTheresa Brunet, Kirsty McWalter, Katharina Mayerhanser, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 17, 2021
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new familiesAnne Guimier, Melanie T Achleitner, Anne Moreau de Bellaing, et al.
Annals of Neurology|September 20, 2024
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental DisorderPatrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, et al.
Nature Communications|May 4, 2019
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and languageLot Snijders Blok, Justine Rousseau, Joanna Twist, et al.
Hepatology (Baltimore, Md.)|November 17, 2023
Genetic landscape of pediatric acute liver failure of indeterminate originDominic Lenz, Lea D Schlieben, Masaru Shimura, et al.
American Journal of Human Genetics|November 19, 2025
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disabilityAriane Kröll-Hermi, Corinne Stoetzel, Christelle Etard, et al.
Pageof 56

Showing results (541-550 of 555) with videos related to

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Pageof 56
Medrxiv : the Preprint Server for Health Sciences|June 29, 2026
The clinical utility of functional testing in fibroblasts to diagnose primary mitochondrial diseaseJohan L K Van Hove, Marisa W Friederich, Roxanne A Van Hove, et al.
Annals of Neurology|December 6, 2017
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 casesRoeltje R Maas, Katarzyna Iwanicka-Pronicka, Sema Kalkan Ucar, et al.
American Journal of Human Genetics|February 27, 2018
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic DisorderMonika Oláhová, Wan Hee Yoon, Kyle Thompson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 28, 2022
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variantsGeorg F Vogel, Yael Mozer-Glassberg, Yuval E Landau, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 11, 2020
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorderTheresa Brunet, Kirsty McWalter, Katharina Mayerhanser, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 17, 2021
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new familiesAnne Guimier, Melanie T Achleitner, Anne Moreau de Bellaing, et al.
Annals of Neurology|September 20, 2024
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental DisorderPatrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, et al.
Nature Communications|May 4, 2019
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and languageLot Snijders Blok, Justine Rousseau, Joanna Twist, et al.
Hepatology (Baltimore, Md.)|November 17, 2023
Genetic landscape of pediatric acute liver failure of indeterminate originDominic Lenz, Lea D Schlieben, Masaru Shimura, et al.
American Journal of Human Genetics|November 19, 2025
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disabilityAriane Kröll-Hermi, Corinne Stoetzel, Christelle Etard, et al.
Pageof 56