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Journal of Medical Genetics
|
October 17, 2009
Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome
Bernard Thienpont, Frédérique Béna, Jeroen Breckpot, et al.
American Journal of Human Genetics
|
September 11, 2012
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome
M Chiara Manzini, Dimira E Tambunan, R Sean Hill, et al.
Genome Medicine
|
August 10, 2022
REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats
Egor Dolzhenko, Ben Weisburd, Kristina Ibañez, et al.
BMJ Open
|
September 4, 2024
Genetics Navigator: protocol for a mixed methods randomized controlled trial evaluating a digital platform to deliver genomic services in Canadian pediatric and adult populations
Guylaine D'Amours, Marc Clausen, Stephanie Luca, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 20, 2021
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation
Eric Legius, Ludwine Messiaen, Pierre Wolkenstein, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 8, 2022
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation
Scott R Plotkin, Ludwine Messiaen, Eric Legius, et al.
American Journal of Medical Genetics. Part A
|
September 27, 2014
Update from the 2013 International Neurofibromatosis Conference
Scott R Plotkin, Anne C Albers, Dusica Babovic-Vuksanovic, et al.
American Journal of Human Genetics
|
May 15, 2010
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
David T Miller, Margaret P Adam, Swaroop Aradhya, et al.
American Journal of Human Genetics
|
December 9, 2017
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder
Sara Cuvertino, Helen M Stuart, Kate E Chandler, et al.
HGG Advances
|
May 23, 2022
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study
Alison M Elliott, Shelin Adam, Christèle du Souich, et al.
Page
of 17
Search research articles
Search
Showing results (151-160 of 165) with videos related to
Sort By:
Page
of 17
Journal of Medical Genetics
|
October 17, 2009
Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome
Bernard Thienpont, Frédérique Béna, Jeroen Breckpot, et al.
American Journal of Human Genetics
|
September 11, 2012
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome
M Chiara Manzini, Dimira E Tambunan, R Sean Hill, et al.
Genome Medicine
|
August 10, 2022
REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats
Egor Dolzhenko, Ben Weisburd, Kristina Ibañez, et al.
BMJ Open
|
September 4, 2024
Genetics Navigator: protocol for a mixed methods randomized controlled trial evaluating a digital platform to deliver genomic services in Canadian pediatric and adult populations
Guylaine D'Amours, Marc Clausen, Stephanie Luca, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 20, 2021
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation
Eric Legius, Ludwine Messiaen, Pierre Wolkenstein, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 8, 2022
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation
Scott R Plotkin, Ludwine Messiaen, Eric Legius, et al.
American Journal of Medical Genetics. Part A
|
September 27, 2014
Update from the 2013 International Neurofibromatosis Conference
Scott R Plotkin, Anne C Albers, Dusica Babovic-Vuksanovic, et al.
American Journal of Human Genetics
|
May 15, 2010
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
David T Miller, Margaret P Adam, Swaroop Aradhya, et al.
American Journal of Human Genetics
|
December 9, 2017
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder
Sara Cuvertino, Helen M Stuart, Kate E Chandler, et al.
HGG Advances
|
May 23, 2022
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study
Alison M Elliott, Shelin Adam, Christèle du Souich, et al.
Page
of 17