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J Wegner

Showing results (131-140 of 154) with videos related to

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American Journal of Human Genetics|November 12, 2018
Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch SyndromeJennifer A Wambach, Daniel J Wegner, Nivedita Patni, et al.
Molecular Genetics and Metabolism|January 1, 2025
Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5Marwan Shinawi, Daniel J Wegner, Alexander J Paul, et al.
American Journal of Human Genetics|November 20, 2020
A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl<sup>-</sup>/H<sup>+</sup>-Exchanger, Causes Early-Onset NeurodegenerationMaya M Polovitskaya, Carlo Barbini, Diego Martinelli, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 7, 2024
Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalitiesMatthew J Moulton, Kristhen Atala, Yiming Zheng, et al.
American Journal of Respiratory Cell and Molecular Biology|December 29, 2023
Homozygous, Intragenic Tandem Duplication of <i>SFTPB</i> Causes Neonatal Respiratory FailureJennifer A Wambach, Daniel J Wegner, Joseph Kitzmiller, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 13, 2021
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed casesShilpa Nadimpalli Kobren, Dustin Baldridge, Matt Velinder, et al.
Human Mutation|July 21, 2017
Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN)Jennifer A Wambach, Georg M Stettner, Tobias B Haack, et al.
Hepatology (Baltimore, Md.)|September 26, 2015
Eliciting the mitochondrial unfolded protein response by nicotinamide adenine dinucleotide repletion reverses fatty liver disease in miceKarim Gariani, Keir J Menzies, Dongryeol Ryu, et al.
Ebiomedicine|March 1, 2025
Bi-allelic LAMP3 variants in childhood interstitial lung disease: a surfactant-related diseaseCamille Louvrier, Tifenn Desroziers, Yohan Soreze, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 7, 2026
Biallelic LAMP3 Variants in Five Families with Interstitial Lung Disease: Evidence of a Disease-Gene AssociationLaura A Keehan, Hitomi Ono-Minagi, Mohamad Hadhud, et al.
Pageof 16

Showing results (131-140 of 154) with videos related to

Sort By:
Pageof 16
American Journal of Human Genetics|November 12, 2018
Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch SyndromeJennifer A Wambach, Daniel J Wegner, Nivedita Patni, et al.
Molecular Genetics and Metabolism|January 1, 2025
Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5Marwan Shinawi, Daniel J Wegner, Alexander J Paul, et al.
American Journal of Human Genetics|November 20, 2020
A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl<sup>-</sup>/H<sup>+</sup>-Exchanger, Causes Early-Onset NeurodegenerationMaya M Polovitskaya, Carlo Barbini, Diego Martinelli, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 7, 2024
Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalitiesMatthew J Moulton, Kristhen Atala, Yiming Zheng, et al.
American Journal of Respiratory Cell and Molecular Biology|December 29, 2023
Homozygous, Intragenic Tandem Duplication of <i>SFTPB</i> Causes Neonatal Respiratory FailureJennifer A Wambach, Daniel J Wegner, Joseph Kitzmiller, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 13, 2021
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed casesShilpa Nadimpalli Kobren, Dustin Baldridge, Matt Velinder, et al.
Human Mutation|July 21, 2017
Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN)Jennifer A Wambach, Georg M Stettner, Tobias B Haack, et al.
Hepatology (Baltimore, Md.)|September 26, 2015
Eliciting the mitochondrial unfolded protein response by nicotinamide adenine dinucleotide repletion reverses fatty liver disease in miceKarim Gariani, Keir J Menzies, Dongryeol Ryu, et al.
Ebiomedicine|March 1, 2025
Bi-allelic LAMP3 variants in childhood interstitial lung disease: a surfactant-related diseaseCamille Louvrier, Tifenn Desroziers, Yohan Soreze, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 7, 2026
Biallelic LAMP3 Variants in Five Families with Interstitial Lung Disease: Evidence of a Disease-Gene AssociationLaura A Keehan, Hitomi Ono-Minagi, Mohamad Hadhud, et al.
Pageof 16