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William Reardon

Showing results (41-50 of 68) with videos related to

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Journal of Pediatric Genetics|August 11, 2017
Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech, and Involuntary MovementsIrena Vrečar, Josie Innes, Elizabeth A Jones, et al.
European Journal of Pediatrics|February 24, 2010
Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28William Reardon, Veronica Donoghue, Anne-Marie Murphy, et al.
Human Molecular Genetics|October 24, 2002
Okihiro syndrome is caused by SALL4 mutationsJürgen Kohlhase, Marielle Heinrich, Lucia Schubert, et al.
American Journal of Human Genetics|March 16, 2007
Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvementAnnagiusi Gargiulo, Renata Auricchio, Maria Vittoria Barone, et al.
Clinical Genetics|November 1, 2020
An X-linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 geneKornelia Tripolszki, Erina Sasaki, Ronja Hotakainen, et al.
Human Reproduction (Oxford, England)|October 9, 2007
A survey of assisted reproductive technology births and imprinting disordersSarah Bowdin, Cathy Allen, Gail Kirby, et al.
American Journal of Medical Genetics. Part A|September 14, 2007
WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformationsMohnish Suri, Peter Kelehan, David O'neill, et al.
American Journal of Human Genetics|March 29, 2005
Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesisNingwu Huang, Amit V Pandey, Vishal Agrawal, et al.
Cell Reports|October 13, 2016
Astroglial-Mediated Remodeling of the Interhemispheric Midline Is Required for the Formation of the Corpus CallosumIlan Gobius, Laura Morcom, Rodrigo Suárez, et al.
Frontiers in Neurology|February 15, 2019
Extracranial and Intracranial Vasculopathy With "Moyamoya Phenomenon" in Association With Alagille SyndromeSiobhan Delaney, Ged O'Connor, William Reardon, et al.
Pageof 7

Showing results (41-50 of 68) with videos related to

Sort By:
Pageof 7
Journal of Pediatric Genetics|August 11, 2017
Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech, and Involuntary MovementsIrena Vrečar, Josie Innes, Elizabeth A Jones, et al.
European Journal of Pediatrics|February 24, 2010
Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28William Reardon, Veronica Donoghue, Anne-Marie Murphy, et al.
Human Molecular Genetics|October 24, 2002
Okihiro syndrome is caused by SALL4 mutationsJürgen Kohlhase, Marielle Heinrich, Lucia Schubert, et al.
American Journal of Human Genetics|March 16, 2007
Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvementAnnagiusi Gargiulo, Renata Auricchio, Maria Vittoria Barone, et al.
Clinical Genetics|November 1, 2020
An X-linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 geneKornelia Tripolszki, Erina Sasaki, Ronja Hotakainen, et al.
Human Reproduction (Oxford, England)|October 9, 2007
A survey of assisted reproductive technology births and imprinting disordersSarah Bowdin, Cathy Allen, Gail Kirby, et al.
American Journal of Medical Genetics. Part A|September 14, 2007
WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformationsMohnish Suri, Peter Kelehan, David O'neill, et al.
American Journal of Human Genetics|March 29, 2005
Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesisNingwu Huang, Amit V Pandey, Vishal Agrawal, et al.
Cell Reports|October 13, 2016
Astroglial-Mediated Remodeling of the Interhemispheric Midline Is Required for the Formation of the Corpus CallosumIlan Gobius, Laura Morcom, Rodrigo Suárez, et al.
Frontiers in Neurology|February 15, 2019
Extracranial and Intracranial Vasculopathy With "Moyamoya Phenomenon" in Association With Alagille SyndromeSiobhan Delaney, Ged O'Connor, William Reardon, et al.
Pageof 7