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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 20, 2016
Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression
Chelsea Lowther, Marsha Speevak, Christine M Armour, et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology
|
November 2, 2017
Characterization of male breast cancer: results of the EORTC 10085/TBCRC/BIG/NABCG International Male Breast Cancer Program
F Cardoso, J M S Bartlett, L Slaets, et al.
Science Advances
|
May 13, 2021
Pathogenic variants in <i>SMARCA5</i>, a chromatin remodeler, cause a range of syndromic neurodevelopmental features
Dong Li, Qin Wang, Naihua N Gong, et al.
American Journal of Human Genetics
|
February 17, 2015
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay
Jessica X Chong, Margaret J McMillin, Kathryn M Shively, et al.
Nature Genetics
|
February 28, 2012
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
Jean-Baptiste Rivière, Bregje W M van Bon, Alexander Hoischen, et al.
American Journal of Medical Genetics. Part A
|
July 2, 2013
The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes
Cynthia J Curry, Jill A Rosenfeld, Erica Grant, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 8, 2018
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
Lucilla Pizzo, Matthew Jensen, Andrew Polyak, et al.
European Journal of Human Genetics : EJHG
|
July 24, 2014
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases
Alain Verloes, Nataliya Di Donato, Julien Masliah-Planchon, et al.
Journal of Medical Genetics
|
July 17, 2008
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome
D A Koolen, A J Sharp, J A Hurst, et al.
American Journal of Human Genetics
|
January 8, 2021
A dyadic approach to the delineation of diagnostic entities in clinical genomics
Leslie G Biesecker, Margaret P Adam, Fowzan S Alkuraya, et al.
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of 22
Search research articles
Search
Showing results (201-210 of 216) with videos related to
Sort By:
Page
of 22
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 20, 2016
Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression
Chelsea Lowther, Marsha Speevak, Christine M Armour, et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology
|
November 2, 2017
Characterization of male breast cancer: results of the EORTC 10085/TBCRC/BIG/NABCG International Male Breast Cancer Program
F Cardoso, J M S Bartlett, L Slaets, et al.
Science Advances
|
May 13, 2021
Pathogenic variants in <i>SMARCA5</i>, a chromatin remodeler, cause a range of syndromic neurodevelopmental features
Dong Li, Qin Wang, Naihua N Gong, et al.
American Journal of Human Genetics
|
February 17, 2015
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay
Jessica X Chong, Margaret J McMillin, Kathryn M Shively, et al.
Nature Genetics
|
February 28, 2012
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
Jean-Baptiste Rivière, Bregje W M van Bon, Alexander Hoischen, et al.
American Journal of Medical Genetics. Part A
|
July 2, 2013
The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes
Cynthia J Curry, Jill A Rosenfeld, Erica Grant, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 8, 2018
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
Lucilla Pizzo, Matthew Jensen, Andrew Polyak, et al.
European Journal of Human Genetics : EJHG
|
July 24, 2014
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases
Alain Verloes, Nataliya Di Donato, Julien Masliah-Planchon, et al.
Journal of Medical Genetics
|
July 17, 2008
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome
D A Koolen, A J Sharp, J A Hurst, et al.
American Journal of Human Genetics
|
January 8, 2021
A dyadic approach to the delineation of diagnostic entities in clinical genomics
Leslie G Biesecker, Margaret P Adam, Fowzan S Alkuraya, et al.
Page
of 22