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Showing results (161-170 of 166) with videos related to

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Molecular Syndromology|June 7, 2012
Update on Kleefstra SyndromeM H Willemsen, A T Vulto-van Silfhout, W M Nillesen, et al.
Journal of Medical Genetics|January 8, 2008
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesisB W M van Bon, D A Koolen, R Borgatti, et al.
Journal of Medical Genetics|December 20, 2011
A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial featuresAnna-Maja Molin, J Andrieux, D A Koolen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 27, 2020
De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 femalesD L Polla, E J Bhoj, J B G M Verheij, et al.
Clinical Genetics|October 21, 2016
Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?S El Chehadeh, R Touraine, F Prieur, et al.
Clinical Genetics|January 17, 2013
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype studyP Makrythanasis, B W van Bon, M Steehouwer, et al.
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Showing results (161-170 of 166) with videos related to

Sort By:
Pageof 17
You have reached the last page of results.This site can display upto 166 results.
Molecular Syndromology|June 7, 2012
Update on Kleefstra SyndromeM H Willemsen, A T Vulto-van Silfhout, W M Nillesen, et al.
Journal of Medical Genetics|January 8, 2008
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesisB W M van Bon, D A Koolen, R Borgatti, et al.
Journal of Medical Genetics|December 20, 2011
A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial featuresAnna-Maja Molin, J Andrieux, D A Koolen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 27, 2020
De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 femalesD L Polla, E J Bhoj, J B G M Verheij, et al.
Clinical Genetics|October 21, 2016
Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?S El Chehadeh, R Touraine, F Prieur, et al.
Clinical Genetics|January 17, 2013
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype studyP Makrythanasis, B W van Bon, M Steehouwer, et al.
Pageof 17