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Anne Slavotinek

Showing results (51-60 of 147) with videos related to

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Pediatrics|February 3, 2006
Prenatal diagnosis of familial type I choledochal cystMatthew S Clifton, Ruth B Goldstein, Anne Slavotinek, et al.
Ophthalmic Genetics|November 24, 2022
Retinopathy and optic atrophy in a case of <i>COQ2</i>-related primary coenzyme Q<sub>10</sub> deficiencyJeannette Y Stallworth, David R Blair, Anne Slavotinek, et al.
American Journal of Medical Genetics. Part A|January 6, 2005
Marinesco-Sjögren syndrome in a male with mild dysmorphismAnne Slavotinek, Jill Goldman, Kara Weisiger, et al.
European Journal of Human Genetics : EJHG|July 17, 2014
Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmiaPaul D Brady, Hilde Van Esch, Nathalie Fieremans, et al.
Frontiers in Genetics|July 7, 2023
Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndromeDima Qu'd, Lauren M Schmitt, Amber Leston, et al.
American Journal of Medical Genetics. Part A|March 14, 2007
Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new casesChumei Li, Sandra L Marles, Cheryl R Greenberg, et al.
European Journal of Medical Genetics|December 23, 2021
Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1AAnne Slavotinek, Mathilde Lefebvre, Anne-Claire Brehin, et al.
American Journal of Medical Genetics. Part A|March 26, 2018
Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys)Kristin E Hirabayashi, Anthony T Moore, Bryce A Mendelsohn, et al.
American Journal of Medical Genetics. Part A|February 13, 2013
Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndromeJared Nathanson, Daniel T Swarr, Amihood Singer, et al.
American Journal of Human Genetics|January 6, 2015
CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoproteinAnne Slavotinek, Julie Kaylor, Heather Pierce, et al.
Pageof 15

Showing results (51-60 of 147) with videos related to

Sort By:
Pageof 15
Pediatrics|February 3, 2006
Prenatal diagnosis of familial type I choledochal cystMatthew S Clifton, Ruth B Goldstein, Anne Slavotinek, et al.
Ophthalmic Genetics|November 24, 2022
Retinopathy and optic atrophy in a case of <i>COQ2</i>-related primary coenzyme Q<sub>10</sub> deficiencyJeannette Y Stallworth, David R Blair, Anne Slavotinek, et al.
American Journal of Medical Genetics. Part A|January 6, 2005
Marinesco-Sjögren syndrome in a male with mild dysmorphismAnne Slavotinek, Jill Goldman, Kara Weisiger, et al.
European Journal of Human Genetics : EJHG|July 17, 2014
Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmiaPaul D Brady, Hilde Van Esch, Nathalie Fieremans, et al.
Frontiers in Genetics|July 7, 2023
Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndromeDima Qu'd, Lauren M Schmitt, Amber Leston, et al.
American Journal of Medical Genetics. Part A|March 14, 2007
Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new casesChumei Li, Sandra L Marles, Cheryl R Greenberg, et al.
European Journal of Medical Genetics|December 23, 2021
Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1AAnne Slavotinek, Mathilde Lefebvre, Anne-Claire Brehin, et al.
American Journal of Medical Genetics. Part A|March 26, 2018
Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys)Kristin E Hirabayashi, Anthony T Moore, Bryce A Mendelsohn, et al.
American Journal of Medical Genetics. Part A|February 13, 2013
Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndromeJared Nathanson, Daniel T Swarr, Amihood Singer, et al.
American Journal of Human Genetics|January 6, 2015
CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoproteinAnne Slavotinek, Julie Kaylor, Heather Pierce, et al.
Pageof 15