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A Slavotinek

Showing results (31-40 of 37) with videos related to

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Journal of Medical Genetics|February 4, 2005
Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndromeJ S Lee, M Tartaglia, B D Gelb, et al.
Journal of Medical Genetics|June 3, 1999
Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeresA Slavotinek, M Rosenberg, S Knight, et al.
Ophthalmic Genetics|September 24, 2016
Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasiaE Ullah, D Wu, L Madireddy, et al.
Clinical Genetics|April 6, 2013
Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndromeH E Feberwee, I Feenstra, S Oberoi, et al.
The Journal of Clinical Endocrinology and Metabolism|August 11, 2015
Expanding the Clinical Spectrum Associated With GLIS3 MutationsP Dimitri, A M Habeb, F Gurbuz, et al.
Journal of Medical Genetics|May 19, 2009
Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndromeT Y Tan, S Aftimos, L Worgan, et al.
Clinical Genetics|January 24, 2017
Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizuresD Stern, M T Cho, R Chikarmane, et al.
Pageof 4

Showing results (31-40 of 37) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 37 results.
Journal of Medical Genetics|February 4, 2005
Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndromeJ S Lee, M Tartaglia, B D Gelb, et al.
Journal of Medical Genetics|June 3, 1999
Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeresA Slavotinek, M Rosenberg, S Knight, et al.
Ophthalmic Genetics|September 24, 2016
Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasiaE Ullah, D Wu, L Madireddy, et al.
Clinical Genetics|April 6, 2013
Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndromeH E Feberwee, I Feenstra, S Oberoi, et al.
The Journal of Clinical Endocrinology and Metabolism|August 11, 2015
Expanding the Clinical Spectrum Associated With GLIS3 MutationsP Dimitri, A M Habeb, F Gurbuz, et al.
Journal of Medical Genetics|May 19, 2009
Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndromeT Y Tan, S Aftimos, L Worgan, et al.
Clinical Genetics|January 24, 2017
Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizuresD Stern, M T Cho, R Chikarmane, et al.
Pageof 4