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American Journal of Medical Genetics. Part A
|
May 10, 2019
Review of the phenotypic spectrum associated with haploinsufficiency of MYRF
Linda Z Rossetti, Kevin Glinton, Bo Yuan, et al.
Human Genetics
|
August 15, 2012
Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization
Svetlana A Yatsenko, Patricia Hixson, Erin K Roney, et al.
American Journal of Medical Genetics. Part A
|
July 17, 2009
Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia
Margaret J Wat, Oleg A Shchelochkov, Ashley M Holder, et al.
Plos One
|
March 29, 2013
Novel frem1-related mouse phenotypes and evidence of genetic interactions with gata4 and slit3
Tyler F Beck, Oleg A Shchelochkov, Zhiyin Yu, et al.
Investigative Ophthalmology & Visual Science
|
March 19, 2024
High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma
Bhavana Kunisetty, Bailey A Martin-Giacalone, Xiaonan Zhao, et al.
Human Molecular Genetics
|
March 31, 2023
SOX7 deficiency causes ventricular septal defects through its effects on endocardial-to-mesenchymal transition and the expression of Wnt4 and Bmp2
Andrés Hernández-García, Katherine E Pendleton, Sangbae Kim, et al.
American Journal of Medical Genetics. Part A
|
September 15, 2019
Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease
Nishitha R Pillai, Delia Yubero, Brian J Shayota, et al.
Plos One
|
March 2, 2013
An allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions
Bum Jun Kim, Hitisha P Zaveri, Oleg A Shchelochkov, et al.
American Journal of Medical Genetics. Part A
|
July 9, 2025
A Rare Molecular Diagnosis in a Patient With Hepatocerebral Syndrome Contributes to the Expansion of the Phenotypic Spectrum of POLG2-Related Mitochondrial Disorder
Vittoria Rossi, Dan Brooks, Hongzheng Dai, et al.
American Journal of Medical Genetics. Part A
|
April 9, 2022
A novel, de novo intronic variant in POGZ causes White-Sutton syndrome
Ashanta Merriweather, David R Murdock, Jill A Rosenfeld, et al.
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Showing results (41-50 of 128) with videos related to
Sort By:
Page
of 13
American Journal of Medical Genetics. Part A
|
May 10, 2019
Review of the phenotypic spectrum associated with haploinsufficiency of MYRF
Linda Z Rossetti, Kevin Glinton, Bo Yuan, et al.
Human Genetics
|
August 15, 2012
Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization
Svetlana A Yatsenko, Patricia Hixson, Erin K Roney, et al.
American Journal of Medical Genetics. Part A
|
July 17, 2009
Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia
Margaret J Wat, Oleg A Shchelochkov, Ashley M Holder, et al.
Plos One
|
March 29, 2013
Novel frem1-related mouse phenotypes and evidence of genetic interactions with gata4 and slit3
Tyler F Beck, Oleg A Shchelochkov, Zhiyin Yu, et al.
Investigative Ophthalmology & Visual Science
|
March 19, 2024
High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma
Bhavana Kunisetty, Bailey A Martin-Giacalone, Xiaonan Zhao, et al.
Human Molecular Genetics
|
March 31, 2023
SOX7 deficiency causes ventricular septal defects through its effects on endocardial-to-mesenchymal transition and the expression of Wnt4 and Bmp2
Andrés Hernández-García, Katherine E Pendleton, Sangbae Kim, et al.
American Journal of Medical Genetics. Part A
|
September 15, 2019
Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease
Nishitha R Pillai, Delia Yubero, Brian J Shayota, et al.
Plos One
|
March 2, 2013
An allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions
Bum Jun Kim, Hitisha P Zaveri, Oleg A Shchelochkov, et al.
American Journal of Medical Genetics. Part A
|
July 9, 2025
A Rare Molecular Diagnosis in a Patient With Hepatocerebral Syndrome Contributes to the Expansion of the Phenotypic Spectrum of POLG2-Related Mitochondrial Disorder
Vittoria Rossi, Dan Brooks, Hongzheng Dai, et al.
American Journal of Medical Genetics. Part A
|
April 9, 2022
A novel, de novo intronic variant in POGZ causes White-Sutton syndrome
Ashanta Merriweather, David R Murdock, Jill A Rosenfeld, et al.
Page
of 13