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Susan M White

Showing results (71-80 of 160) with videos related to

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American Journal of Medical Genetics. Part A|February 23, 2019
EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndromeSara Griffiths, Chey Loveday, Anna Zachariou, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|June 9, 2016
Epilepsy in KCNH1-related syndromesMario Mastrangelo, Ingrid E Scheffer, Nuria C Bramswig, et al.
Human Mutation|November 10, 2020
Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10Guy Helman, Alison G Compton, Daniella H Hock, et al.
American Journal of Medical Genetics. Part A|August 12, 2011
Pierpont syndrome: a collaborative studyEmma M M Burkitt Wright, Mohnish Suri, Susan M White, et al.
American Journal of Human Genetics|March 21, 2020
Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial CalcificationXiaomin Dong, Natalie B Tan, Katherine B Howell, et al.
European Journal of Human Genetics : EJHG|July 20, 2019
A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysisTiong Yang Tan, Sebastian Lunke, Belinda Chong, et al.
Orphanet Journal of Rare Diseases|March 29, 2014
Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiencyJoe C H Sim, Susan M White, Elizabeth Fitzpatrick, et al.
American Journal of Human Genetics|March 30, 2020
Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and SeizuresTiong Yang Tan, Jiří Sedmík, Mark P Fitzgerald, et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao|January 2, 2021
Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A)Simranpreet Kaur, Nicole J Van Bergen, Bruria Ben-Zeev, et al.
American Journal of Human Genetics|January 24, 2012
De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndromeMichael A Simpson, Charu Deshpande, Dimitra Dafou, et al.
Pageof 16

Showing results (71-80 of 160) with videos related to

Sort By:
Pageof 16
American Journal of Medical Genetics. Part A|February 23, 2019
EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndromeSara Griffiths, Chey Loveday, Anna Zachariou, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|June 9, 2016
Epilepsy in KCNH1-related syndromesMario Mastrangelo, Ingrid E Scheffer, Nuria C Bramswig, et al.
Human Mutation|November 10, 2020
Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10Guy Helman, Alison G Compton, Daniella H Hock, et al.
American Journal of Medical Genetics. Part A|August 12, 2011
Pierpont syndrome: a collaborative studyEmma M M Burkitt Wright, Mohnish Suri, Susan M White, et al.
American Journal of Human Genetics|March 21, 2020
Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial CalcificationXiaomin Dong, Natalie B Tan, Katherine B Howell, et al.
European Journal of Human Genetics : EJHG|July 20, 2019
A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysisTiong Yang Tan, Sebastian Lunke, Belinda Chong, et al.
Orphanet Journal of Rare Diseases|March 29, 2014
Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiencyJoe C H Sim, Susan M White, Elizabeth Fitzpatrick, et al.
American Journal of Human Genetics|March 30, 2020
Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and SeizuresTiong Yang Tan, Jiří Sedmík, Mark P Fitzgerald, et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao|January 2, 2021
Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A)Simranpreet Kaur, Nicole J Van Bergen, Bruria Ben-Zeev, et al.
American Journal of Human Genetics|January 24, 2012
De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndromeMichael A Simpson, Charu Deshpande, Dimitra Dafou, et al.
Pageof 16