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Darrel Waggoner

Showing results (21-30 of 33) with videos related to

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Molecular Genetics & Genomic Medicine|April 2, 2014
Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletionYu-Wei Cheng, Christopher A Tan, Agata Minor, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2018
Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)Darrel Waggoner, Karen E Wain, Adrian M Dubuc, et al.
Human Molecular Genetics|January 8, 2011
Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13Minal Çalışkan, Jessica X Chong, Lawrence Uricchio, et al.
American Journal of Human Genetics|June 9, 2005
Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrationsKatrina Tatton-Brown, Jenny Douglas, Kim Coleman, et al.
Neurosurgery|April 8, 2017
Synopsis of Guidelines for the Clinical Management of Cerebral Cavernous Malformations: Consensus Recommendations Based on Systematic Literature Review by the Angioma Alliance Scientific Advisory Board Clinical Experts PanelAmy Akers, Rustam Al-Shahi Salman, Issam A Awad, et al.
Neurogenetics|April 21, 2016
A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defectsDavid B Beck, Megan T Cho, Francisca Millan, et al.
American Journal of Human Genetics|May 25, 2010
Haploinsufficiency of TAB2 causes congenital heart defects in humansBernard Thienpont, Litu Zhang, Alex V Postma, et al.
Neurogenetics|May 2, 2019
A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activityDavid B Beck, T Subramanian, S Vijayalingam, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 12, 2018
Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals"Kai Lee Yap, Amy E Knight Johnson, David Fischer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 17, 2018
Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individualsKai Lee Yap, Amy E Knight Johnson, David Fischer, et al.
Pageof 4

Showing results (21-30 of 33) with videos related to

Sort By:
Pageof 4
Molecular Genetics & Genomic Medicine|April 2, 2014
Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletionYu-Wei Cheng, Christopher A Tan, Agata Minor, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2018
Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)Darrel Waggoner, Karen E Wain, Adrian M Dubuc, et al.
Human Molecular Genetics|January 8, 2011
Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13Minal Çalışkan, Jessica X Chong, Lawrence Uricchio, et al.
American Journal of Human Genetics|June 9, 2005
Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrationsKatrina Tatton-Brown, Jenny Douglas, Kim Coleman, et al.
Neurosurgery|April 8, 2017
Synopsis of Guidelines for the Clinical Management of Cerebral Cavernous Malformations: Consensus Recommendations Based on Systematic Literature Review by the Angioma Alliance Scientific Advisory Board Clinical Experts PanelAmy Akers, Rustam Al-Shahi Salman, Issam A Awad, et al.
Neurogenetics|April 21, 2016
A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defectsDavid B Beck, Megan T Cho, Francisca Millan, et al.
American Journal of Human Genetics|May 25, 2010
Haploinsufficiency of TAB2 causes congenital heart defects in humansBernard Thienpont, Litu Zhang, Alex V Postma, et al.
Neurogenetics|May 2, 2019
A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activityDavid B Beck, T Subramanian, S Vijayalingam, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 12, 2018
Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals"Kai Lee Yap, Amy E Knight Johnson, David Fischer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 17, 2018
Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individualsKai Lee Yap, Amy E Knight Johnson, David Fischer, et al.
Pageof 4