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Orphanet Journal of Rare Diseases
|
March 19, 2020
Abnormally increased carotid intima media-thickness and elasticity in patients with Morquio A disease
Raymond Y Wang, Kyle D Rudser, Donald R Dengel, et al.
The Journal of Allergy and Clinical Immunology
|
December 8, 2023
MYSM1 attenuates DNA damage signals triggered by physiologic and genotoxic DNA breaks
Brendan Mathias, David O'Leary, Nermina Saucier, et al.
European Journal of Human Genetics : EJHG
|
July 7, 2019
De novo substitutions of TRPM3 cause intellectual disability and epilepsy
David A Dyment, Paulien A Terhal, Cecilie F Rustad, et al.
Nature Communications
|
November 24, 2021
Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis
Kellan P Weston, Xiaoyi Gao, Jinghan Zhao, et al.
American Journal of Medical Genetics. Part A
|
September 24, 2017
The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies
Wei Shen, Jennifer M Heeley, Colleen M Carlston, et al.
Human Mutation
|
August 30, 2018
Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants
Jorge L Granadillo, Wendy K Chung, Leah Hecht, et al.
Molecular Genetics and Metabolism Reports
|
June 11, 2021
A phase 1/2 open label nonrandomized clinical trial of intravenous 2-hydroxypropyl-β-cyclodextrin for acute liver disease in infants with Niemann-Pick C1
Margaret Reynolds, Laura A Linneman, Sofia Luna, et al.
Journal of Medical Genetics
|
July 18, 2015
Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy
Wendy K Chung, Kimberly Martin, Chaim Jalas, et al.
Molecular Genetics and Metabolism
|
July 1, 2023
Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ<sub>10</sub> deficiency: Hypomorphic variants and two distinct disease entities
Parith Wongkittichote, Maria Laura Duque Lasio, Martina Magistrati, et al.
American Journal of Medical Genetics. Part A
|
May 1, 2021
Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2)
Kristen K Rosano, Daniel J Wegner, Marwan Shinawi, et al.
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Search research articles
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Showing results (81-90 of 170) with videos related to
Sort By:
Page
of 17
Orphanet Journal of Rare Diseases
|
March 19, 2020
Abnormally increased carotid intima media-thickness and elasticity in patients with Morquio A disease
Raymond Y Wang, Kyle D Rudser, Donald R Dengel, et al.
The Journal of Allergy and Clinical Immunology
|
December 8, 2023
MYSM1 attenuates DNA damage signals triggered by physiologic and genotoxic DNA breaks
Brendan Mathias, David O'Leary, Nermina Saucier, et al.
European Journal of Human Genetics : EJHG
|
July 7, 2019
De novo substitutions of TRPM3 cause intellectual disability and epilepsy
David A Dyment, Paulien A Terhal, Cecilie F Rustad, et al.
Nature Communications
|
November 24, 2021
Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis
Kellan P Weston, Xiaoyi Gao, Jinghan Zhao, et al.
American Journal of Medical Genetics. Part A
|
September 24, 2017
The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies
Wei Shen, Jennifer M Heeley, Colleen M Carlston, et al.
Human Mutation
|
August 30, 2018
Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants
Jorge L Granadillo, Wendy K Chung, Leah Hecht, et al.
Molecular Genetics and Metabolism Reports
|
June 11, 2021
A phase 1/2 open label nonrandomized clinical trial of intravenous 2-hydroxypropyl-β-cyclodextrin for acute liver disease in infants with Niemann-Pick C1
Margaret Reynolds, Laura A Linneman, Sofia Luna, et al.
Journal of Medical Genetics
|
July 18, 2015
Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy
Wendy K Chung, Kimberly Martin, Chaim Jalas, et al.
Molecular Genetics and Metabolism
|
July 1, 2023
Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ<sub>10</sub> deficiency: Hypomorphic variants and two distinct disease entities
Parith Wongkittichote, Maria Laura Duque Lasio, Martina Magistrati, et al.
American Journal of Medical Genetics. Part A
|
May 1, 2021
Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2)
Kristen K Rosano, Daniel J Wegner, Marwan Shinawi, et al.
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of 17