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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 31, 2023
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse
Anne-Sophie Denommé-Pichon, Stephan C Collins, Ange-Line Bruel, et al.
JAMA
|
November 19, 2009
Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome
Ludwine Messiaen, Suxia Yao, Hilde Brems, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
September 17, 2004
Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice
Mark Veugelers, David Wilkes, Kimberly Burton, et al.
International Journal of Molecular Sciences
|
November 26, 2022
Episignature Mapping of <i>TRIP12</i> Provides Functional Insight into Clark-Baraitser Syndrome
Liselot van der Laan, Kathleen Rooney, Mariëlle Alders, et al.
American Journal of Medical Genetics. Part A
|
January 21, 2014
CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies
Brigitte C Widemann, Maria T Acosta, Sylvia Ammoun, et al.
Clinical Genetics
|
July 11, 2024
The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants
Francesca Furia, Amanda M Levy, Miel Theunis, et al.
American Journal of Medical Genetics. Part A
|
December 17, 2009
Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back
Katherine A Rauen, Lisa Schoyer, Frank McCormick, et al.
American Journal of Human Genetics
|
July 27, 2021
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila
Lindsey D Goodman, Heidi Cope, Zelha Nil, et al.
European Journal of Human Genetics : EJHG
|
February 6, 2023
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
Mio Aerden, Anne-Sophie Denommé-Pichon, Dominique Bonneau, et al.
Human Mutation
|
July 17, 2015
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation
Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes, et al.
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Search research articles
Search
Showing results (151-160 of 165) with videos related to
Sort By:
Page
of 17
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 31, 2023
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse
Anne-Sophie Denommé-Pichon, Stephan C Collins, Ange-Line Bruel, et al.
JAMA
|
November 19, 2009
Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome
Ludwine Messiaen, Suxia Yao, Hilde Brems, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
September 17, 2004
Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice
Mark Veugelers, David Wilkes, Kimberly Burton, et al.
International Journal of Molecular Sciences
|
November 26, 2022
Episignature Mapping of <i>TRIP12</i> Provides Functional Insight into Clark-Baraitser Syndrome
Liselot van der Laan, Kathleen Rooney, Mariëlle Alders, et al.
American Journal of Medical Genetics. Part A
|
January 21, 2014
CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies
Brigitte C Widemann, Maria T Acosta, Sylvia Ammoun, et al.
Clinical Genetics
|
July 11, 2024
The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants
Francesca Furia, Amanda M Levy, Miel Theunis, et al.
American Journal of Medical Genetics. Part A
|
December 17, 2009
Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back
Katherine A Rauen, Lisa Schoyer, Frank McCormick, et al.
American Journal of Human Genetics
|
July 27, 2021
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila
Lindsey D Goodman, Heidi Cope, Zelha Nil, et al.
European Journal of Human Genetics : EJHG
|
February 6, 2023
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
Mio Aerden, Anne-Sophie Denommé-Pichon, Dominique Bonneau, et al.
Human Mutation
|
July 17, 2015
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation
Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes, et al.
Page
of 17