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John M Graham

Showing results (161-170 of 208) with videos related to

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American Journal of Medical Genetics. Part A|June 23, 2015
Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significanceJohn C K Barber, Jill A Rosenfeld, John M Graham, et al.
Clinical Genetics|December 31, 2020
Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2Yuri A Zarate, Katherine A Bosanko, Mary Ann Thomas, et al.
Brain : a Journal of Neurology|October 19, 2010
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasiaYasmin Namavar, Peter G Barth, Paul R Kasher, et al.
American Journal of Medical Genetics. Part A|June 18, 2019
Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathyLauren B Carter, Agatino Battaglia, Athena Cherry, et al.
European Journal of Human Genetics : EJHG|October 4, 2012
Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin AEyal Reinstein, Sophia Frentz, Tim Morgan, et al.
Nature Genetics|March 3, 2004
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesisDeborah Krakow, Stephen P Robertson, Lily M King, et al.
Neurology|July 8, 2018
FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutationKarlien Mul, Richard J L F Lemmers, Marjolein Kriek, et al.
American Journal of Human Genetics|April 9, 2011
Loss-of-function mutations in RAB18 cause Warburg micro syndromeDanai Bem, Shin-Ichiro Yoshimura, Ricardo Nunes-Bastos, et al.
American Journal of Medical Genetics. Part A|February 4, 2005
Further delineation of Kabuki syndrome in 48 well-defined new individualsLinlea Armstrong, Azza Abd El Moneim, Kirk Aleck, et al.
American Journal of Human Genetics|September 27, 2016
Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset EncephalopathyElisabetta Flex, Marcello Niceta, Serena Cecchetti, et al.
Pageof 21

Showing results (161-170 of 208) with videos related to

Sort By:
Pageof 21
American Journal of Medical Genetics. Part A|June 23, 2015
Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significanceJohn C K Barber, Jill A Rosenfeld, John M Graham, et al.
Clinical Genetics|December 31, 2020
Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2Yuri A Zarate, Katherine A Bosanko, Mary Ann Thomas, et al.
Brain : a Journal of Neurology|October 19, 2010
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasiaYasmin Namavar, Peter G Barth, Paul R Kasher, et al.
American Journal of Medical Genetics. Part A|June 18, 2019
Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathyLauren B Carter, Agatino Battaglia, Athena Cherry, et al.
European Journal of Human Genetics : EJHG|October 4, 2012
Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin AEyal Reinstein, Sophia Frentz, Tim Morgan, et al.
Nature Genetics|March 3, 2004
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesisDeborah Krakow, Stephen P Robertson, Lily M King, et al.
Neurology|July 8, 2018
FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutationKarlien Mul, Richard J L F Lemmers, Marjolein Kriek, et al.
American Journal of Human Genetics|April 9, 2011
Loss-of-function mutations in RAB18 cause Warburg micro syndromeDanai Bem, Shin-Ichiro Yoshimura, Ricardo Nunes-Bastos, et al.
American Journal of Medical Genetics. Part A|February 4, 2005
Further delineation of Kabuki syndrome in 48 well-defined new individualsLinlea Armstrong, Azza Abd El Moneim, Kirk Aleck, et al.
American Journal of Human Genetics|September 27, 2016
Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset EncephalopathyElisabetta Flex, Marcello Niceta, Serena Cecchetti, et al.
Pageof 21