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Deborah Morrogh

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Orphanet Journal of Rare Diseases|September 24, 2013
X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entityJohanna Christina Czeschik, Peter Bauer, Karin Buiting, et al.
The Journal of Investigative Dermatology|February 9, 2013
Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRASVeronica A Kinsler, Anna C Thomas, Miho Ishida, et al.
European Journal of Human Genetics : EJHG|September 22, 2016
Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disordersKate Wolfe, André Strydom, Deborah Morrogh, et al.
The Journal of Clinical Investigation|March 28, 2017
Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humansFederica Buonocore, Peter Kühnen, Jenifer P Suntharalingham, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|April 1, 2018
Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplicationsKate Wolfe, Andrew McQuillin, Viola Alesi, et al.
American Journal of Human Genetics|December 3, 2014
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndromeAnna C Thomas, Hywel Williams, Núria Setó-Salvia, et al.
Epilepsia|March 14, 2019
Diagnostic implications of genetic copy number variation in epilepsy plusAntonietta Coppola, Elena Cellini, Hannah Stamberger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 19, 2021
Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotypeSatyamaanasa Polubothu, Davide Zecchin, Lara Al-Olabi, et al.
Nature Genetics|May 27, 2017
Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystoniaEsther Meyer, Keren J Carss, Julia Rankin, et al.
Nature Genetics|December 20, 2016
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystoniaEsther Meyer, Keren J Carss, Julia Rankin, et al.
Pageof 2

Showing results (11-20 of 20) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 20 results.
Orphanet Journal of Rare Diseases|September 24, 2013
X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entityJohanna Christina Czeschik, Peter Bauer, Karin Buiting, et al.
The Journal of Investigative Dermatology|February 9, 2013
Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRASVeronica A Kinsler, Anna C Thomas, Miho Ishida, et al.
European Journal of Human Genetics : EJHG|September 22, 2016
Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disordersKate Wolfe, André Strydom, Deborah Morrogh, et al.
The Journal of Clinical Investigation|March 28, 2017
Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humansFederica Buonocore, Peter Kühnen, Jenifer P Suntharalingham, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|April 1, 2018
Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplicationsKate Wolfe, Andrew McQuillin, Viola Alesi, et al.
American Journal of Human Genetics|December 3, 2014
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndromeAnna C Thomas, Hywel Williams, Núria Setó-Salvia, et al.
Epilepsia|March 14, 2019
Diagnostic implications of genetic copy number variation in epilepsy plusAntonietta Coppola, Elena Cellini, Hannah Stamberger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 19, 2021
Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotypeSatyamaanasa Polubothu, Davide Zecchin, Lara Al-Olabi, et al.
Nature Genetics|May 27, 2017
Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystoniaEsther Meyer, Keren J Carss, Julia Rankin, et al.
Nature Genetics|December 20, 2016
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystoniaEsther Meyer, Keren J Carss, Julia Rankin, et al.
Pageof 2