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Cancer Research Communications
|
December 27, 2021
Sex- and mutation-specific p53 gain-of-function activity in gliomagenesis
Nathan C Rockwell, Wei Yang, Nicole M Warrington, et al.
Orphanet Journal of Rare Diseases
|
May 8, 2021
Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision
Dustin Baldridge, Michael F Wangler, Angela N Bowman, et al.
American Journal of Human Genetics
|
September 14, 2022
GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy
Maria Lucia Cediel, Michal Stawarski, Xavier Blanc, et al.
BMC Biology
|
July 29, 2021
Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7
Kesavan Meganathan, Ramachandran Prakasam, Dustin Baldridge, et al.
Molecular Genetics and Metabolism
|
April 1, 2022
Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay
Sara M Fielder, Jill A Rosenfeld, Lindsay C Burrage, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 3, 2017
The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results
Dustin Baldridge, Jennifer Heeley, Marisa Vineyard, et al.
American Journal of Medical Genetics. Part A
|
February 22, 2020
Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome
Dustin Baldridge, Rebecca C Spillmann, Daniel J Wegner, et al.
Medrxiv : the Preprint Server for Health Sciences
|
May 2, 2025
Heterozygous and Homozygous <i>RFC1 AAGGG</i> Repeat Expansions are Common in Idiopathic Peripheral Neuropathy
Zitian Tang, Sinem S Ovunc, Elle Mehinovic, et al.
Annals of Neurology
|
April 11, 2026
Homozygous RFC1 AAGGG Repeat Expansions Are Common in Idiopathic Peripheral Neuropathy
Zitian Tang, Sinem S Ovunc, Ryo Iwase, 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 (11-20 of 49) with videos related to
Sort By:
Page
of 5
Cancer Research Communications
|
December 27, 2021
Sex- and mutation-specific p53 gain-of-function activity in gliomagenesis
Nathan C Rockwell, Wei Yang, Nicole M Warrington, et al.
Orphanet Journal of Rare Diseases
|
May 8, 2021
Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision
Dustin Baldridge, Michael F Wangler, Angela N Bowman, et al.
American Journal of Human Genetics
|
September 14, 2022
GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy
Maria Lucia Cediel, Michal Stawarski, Xavier Blanc, et al.
BMC Biology
|
July 29, 2021
Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7
Kesavan Meganathan, Ramachandran Prakasam, Dustin Baldridge, et al.
Molecular Genetics and Metabolism
|
April 1, 2022
Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay
Sara M Fielder, Jill A Rosenfeld, Lindsay C Burrage, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 3, 2017
The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results
Dustin Baldridge, Jennifer Heeley, Marisa Vineyard, et al.
American Journal of Medical Genetics. Part A
|
February 22, 2020
Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome
Dustin Baldridge, Rebecca C Spillmann, Daniel J Wegner, et al.
Medrxiv : the Preprint Server for Health Sciences
|
May 2, 2025
Heterozygous and Homozygous <i>RFC1 AAGGG</i> Repeat Expansions are Common in Idiopathic Peripheral Neuropathy
Zitian Tang, Sinem S Ovunc, Elle Mehinovic, et al.
Annals of Neurology
|
April 11, 2026
Homozygous RFC1 AAGGG Repeat Expansions Are Common in Idiopathic Peripheral Neuropathy
Zitian Tang, Sinem S Ovunc, Ryo Iwase, 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 5