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Jan M Friedman

Showing results (121-130 of 165) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 26, 2023
Should secondary pharmacogenomic variants be actively screened and reported when diagnostic genome-wide sequencing is performed in a child?Jan M Friedman, Yvonne Bombard, Bruce Carleton, et al.
European Journal of Human Genetics : EJHG|November 21, 2013
Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genesTracy Tucker, Farah R Zahir, Malachi Griffith, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 11, 2024
Real-world diagnostic outcomes and cost-effectiveness of genome-wide sequencing for developmental and seizure disorders: Evidence from CanadaDean A Regier, Rosalie Loewen, Brandon Chan, et al.
Journal of Medical Genetics|January 16, 2007
Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14Björn Menten, Karen Buysse, Farah Zahir, et al.
Human Genomics|May 1, 2026
Inherited TBX4 frameshifting variants predicted to escape nonsense mediated decay in two families with variable phenotypes, including lethal lung developmental disordersShruti A Pande, Hiuling Chan Joiner, Przemyslaw Szafranski, et al.
European Journal of Human Genetics : EJHG|April 27, 2021
Toward the diagnosis of rare childhood genetic diseases: what do parents value most?Samantha Pollard, Deirdre Weymann, Jessica Dunne, et al.
European Journal of Human Genetics : EJHG|June 19, 2021
Correction to: Toward the diagnosis of rare childhood genetic diseases: what do parents value most?Samantha Pollard, Deirdre Weymann, Jessica Dunne, et al.
Psychiatric Genetics|May 23, 2008
A translocation t(6;7)(p11-p12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpointsJohn B Vincent, Sanaa Choufani, Shin-ichi Horike, et al.
Journal of Human Genetics|January 24, 2019
A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8Heba Yasin, William T Gibson, Sylvie Langlois, et al.
Molecular Genetics & Genomic Medicine|September 3, 2019
De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathyMaja Tarailo-Graovac, Farah R Zahir, Irena Zivkovic, et al.
Pageof 17

Showing results (121-130 of 165) with videos related to

Sort By:
Pageof 17
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 26, 2023
Should secondary pharmacogenomic variants be actively screened and reported when diagnostic genome-wide sequencing is performed in a child?Jan M Friedman, Yvonne Bombard, Bruce Carleton, et al.
European Journal of Human Genetics : EJHG|November 21, 2013
Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genesTracy Tucker, Farah R Zahir, Malachi Griffith, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 11, 2024
Real-world diagnostic outcomes and cost-effectiveness of genome-wide sequencing for developmental and seizure disorders: Evidence from CanadaDean A Regier, Rosalie Loewen, Brandon Chan, et al.
Journal of Medical Genetics|January 16, 2007
Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14Björn Menten, Karen Buysse, Farah Zahir, et al.
Human Genomics|May 1, 2026
Inherited TBX4 frameshifting variants predicted to escape nonsense mediated decay in two families with variable phenotypes, including lethal lung developmental disordersShruti A Pande, Hiuling Chan Joiner, Przemyslaw Szafranski, et al.
European Journal of Human Genetics : EJHG|April 27, 2021
Toward the diagnosis of rare childhood genetic diseases: what do parents value most?Samantha Pollard, Deirdre Weymann, Jessica Dunne, et al.
European Journal of Human Genetics : EJHG|June 19, 2021
Correction to: Toward the diagnosis of rare childhood genetic diseases: what do parents value most?Samantha Pollard, Deirdre Weymann, Jessica Dunne, et al.
Psychiatric Genetics|May 23, 2008
A translocation t(6;7)(p11-p12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpointsJohn B Vincent, Sanaa Choufani, Shin-ichi Horike, et al.
Journal of Human Genetics|January 24, 2019
A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8Heba Yasin, William T Gibson, Sylvie Langlois, et al.
Molecular Genetics & Genomic Medicine|September 3, 2019
De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathyMaja Tarailo-Graovac, Farah R Zahir, Irena Zivkovic, et al.
Pageof 17