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Stephen P Robertson

Showing results (21-30 of 146) with videos related to

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American Journal of Medical Genetics. Part A|June 29, 2012
Filamin A mutation associated with normal reading skills and dyslexia in a family with periventricular heterotopiaEyal Reinstein, Bernard S Chang, Stephen P Robertson, et al.
American Journal of Medical Genetics. Part A|August 16, 2014
Arterial tortuosity in patients with Filamin A- associated vascular aneurysmsEyal Reinstein, Shaine A Morris, David L Rimoin, et al.
American Journal of Medical Genetics. Part A|March 31, 2015
Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in FLNA and an atypical paternal phenotype: Insights into genotype-phenotype correlationDebora Bertola, Maria Rita Passos-Bueno, Alexandre Pereira, et al.
American Journal of Medical Genetics. Part A|July 22, 2014
An osteosclerotic form of Robinow syndromeKieran J Bunn, Angeline Lai, Azza Al-Ani, et al.
European Journal of Human Genetics : EJHG|May 15, 2008
A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndromeLouise S Bicknell, James Pitt, Salim Aftimos, et al.
Case Reports in Genetics|April 30, 2014
A turner syndrome patient carrying a mosaic distal x chromosome markerRoberto L P Mazzaschi, Juliet Taylor, Stephen P Robertson, et al.
American Journal of Medical Genetics. Part A|July 14, 2016
Biallelic mutations in CYP26B1: A differential diagnosis for Pfeiffer and Antley-Bixler syndromesJenny E V Morton, Sophia Frentz, Tim Morgan, et al.
Clinical Dysmorphology|April 5, 2008
Characterizing the oculoauriculofrontonasal syndromeMichael T Gabbett, Stephen P Robertson, Roland Broadbent, et al.
American Journal of Medical Genetics. Part A|February 13, 2013
Severe osteopathia striata with cranial sclerosis in a female case with whole WTX gene deletionSean B Herman, Sarah K Holman, Stephen P Robertson, et al.
Human Mutation|February 29, 2020
The X-linked filaminopathies: Synergistic insights from clinical and molecular analysisEmma M Wade, Benjamin J Halliday, Zandra A Jenkins, et al.
Pageof 15

Showing results (21-30 of 146) with videos related to

Sort By:
Pageof 15
American Journal of Medical Genetics. Part A|June 29, 2012
Filamin A mutation associated with normal reading skills and dyslexia in a family with periventricular heterotopiaEyal Reinstein, Bernard S Chang, Stephen P Robertson, et al.
American Journal of Medical Genetics. Part A|August 16, 2014
Arterial tortuosity in patients with Filamin A- associated vascular aneurysmsEyal Reinstein, Shaine A Morris, David L Rimoin, et al.
American Journal of Medical Genetics. Part A|March 31, 2015
Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in FLNA and an atypical paternal phenotype: Insights into genotype-phenotype correlationDebora Bertola, Maria Rita Passos-Bueno, Alexandre Pereira, et al.
American Journal of Medical Genetics. Part A|July 22, 2014
An osteosclerotic form of Robinow syndromeKieran J Bunn, Angeline Lai, Azza Al-Ani, et al.
European Journal of Human Genetics : EJHG|May 15, 2008
A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndromeLouise S Bicknell, James Pitt, Salim Aftimos, et al.
Case Reports in Genetics|April 30, 2014
A turner syndrome patient carrying a mosaic distal x chromosome markerRoberto L P Mazzaschi, Juliet Taylor, Stephen P Robertson, et al.
American Journal of Medical Genetics. Part A|July 14, 2016
Biallelic mutations in CYP26B1: A differential diagnosis for Pfeiffer and Antley-Bixler syndromesJenny E V Morton, Sophia Frentz, Tim Morgan, et al.
Clinical Dysmorphology|April 5, 2008
Characterizing the oculoauriculofrontonasal syndromeMichael T Gabbett, Stephen P Robertson, Roland Broadbent, et al.
American Journal of Medical Genetics. Part A|February 13, 2013
Severe osteopathia striata with cranial sclerosis in a female case with whole WTX gene deletionSean B Herman, Sarah K Holman, Stephen P Robertson, et al.
Human Mutation|February 29, 2020
The X-linked filaminopathies: Synergistic insights from clinical and molecular analysisEmma M Wade, Benjamin J Halliday, Zandra A Jenkins, et al.
Pageof 15