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Katrin Ounap

Showing results (11-20 of 38) with videos related to

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Molecular Genetics and Metabolism|October 15, 2025
Corrigendum to "Incidence and prevalence of phosphomannomutase 2-congenital disorder of glycosylation: Past, present, and future [Molecular Genetics and Metabolism 146 (2025) 109188]"Andrew C Edmondson, Tomas Honzik, Christina Lam, et al.
European Journal of Medical Genetics|April 8, 2014
Mosaicism for maternal uniparental disomy 15 in a boy with some clinical features of Prader-Willi syndromeOlga Zilina, Tiina Kahre, Inga Talvik, et al.
European Journal of Pediatrics|September 22, 2009
LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two case reports and a review of the literatureIngrid Kalev, Kai Muru, Rita Teek, et al.
Paediatric and Perinatal Epidemiology|October 21, 2006
Descriptive epidemiology of Down's syndrome in EstoniaTiia Reimand, Katrin Ounap, Riina Zordania, et al.
Pediatric Neurology|February 18, 2010
A novel mutation in the SCO2 gene in a neonate with early-onset cardioencephalomyopathyKairit Joost, Richard Rodenburg, Andres Piirsoo, et al.
American Journal of Medical Genetics. Part A|January 28, 2003
DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletionOliver Bartsch, Michaela Nemecková, Eduard Kocárek, et al.
European Journal of Medical Genetics|February 14, 2012
A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disabilityKatrin Ounap, Helen Puusepp-Benazzouz, Maire Peters, et al.
European Journal of Medical Genetics|November 6, 2008
5.9 Mb microdeletion in chromosome band 17q22-q23.2 associated with tracheo-esophageal fistula and conductive hearing lossHelen Puusepp, Olga Zilina, Rita Teek, et al.
European Journal of Human Genetics : EJHG|April 21, 2011
Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletionsDiana Mitter, Reinhard Ullmann, Artur Muradyan, et al.
American Journal of Medical Genetics. Part A|April 28, 2006
The neonatal phenotype of Prader-Willi syndromeEve Oiglane-Shlik, Riina Zordania, Heili Varendi, et al.
Pageof 4

Showing results (11-20 of 38) with videos related to

Sort By:
Pageof 4
Molecular Genetics and Metabolism|October 15, 2025
Corrigendum to "Incidence and prevalence of phosphomannomutase 2-congenital disorder of glycosylation: Past, present, and future [Molecular Genetics and Metabolism 146 (2025) 109188]"Andrew C Edmondson, Tomas Honzik, Christina Lam, et al.
European Journal of Medical Genetics|April 8, 2014
Mosaicism for maternal uniparental disomy 15 in a boy with some clinical features of Prader-Willi syndromeOlga Zilina, Tiina Kahre, Inga Talvik, et al.
European Journal of Pediatrics|September 22, 2009
LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two case reports and a review of the literatureIngrid Kalev, Kai Muru, Rita Teek, et al.
Paediatric and Perinatal Epidemiology|October 21, 2006
Descriptive epidemiology of Down's syndrome in EstoniaTiia Reimand, Katrin Ounap, Riina Zordania, et al.
Pediatric Neurology|February 18, 2010
A novel mutation in the SCO2 gene in a neonate with early-onset cardioencephalomyopathyKairit Joost, Richard Rodenburg, Andres Piirsoo, et al.
American Journal of Medical Genetics. Part A|January 28, 2003
DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletionOliver Bartsch, Michaela Nemecková, Eduard Kocárek, et al.
European Journal of Medical Genetics|February 14, 2012
A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disabilityKatrin Ounap, Helen Puusepp-Benazzouz, Maire Peters, et al.
European Journal of Medical Genetics|November 6, 2008
5.9 Mb microdeletion in chromosome band 17q22-q23.2 associated with tracheo-esophageal fistula and conductive hearing lossHelen Puusepp, Olga Zilina, Rita Teek, et al.
European Journal of Human Genetics : EJHG|April 21, 2011
Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletionsDiana Mitter, Reinhard Ullmann, Artur Muradyan, et al.
American Journal of Medical Genetics. Part A|April 28, 2006
The neonatal phenotype of Prader-Willi syndromeEve Oiglane-Shlik, Riina Zordania, Heili Varendi, et al.
Pageof 4