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Katrin Ounap

Showing results (1-10 of 38) with videos related to

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American Journal of Medical Genetics. Part A|March 29, 2005
A girl with inverted triplication of chromosome 3q25.3 --> q29 and multiple congenital anomalies consistent with 3q duplication syndromeKatrin Ounap, Tiiu Ilus, Oliver Bartsch
American Journal of Medical Genetics|March 29, 2002
Girl with combined cellular immunodeficiency, pancytopenia, malformations, deletion 11q23.3 --> qter, and trisomy 8q24.3 --> qterKatrin Ounap, Oliver Bartsch, Oivi Uibo, et al.
American Journal of Medical Genetics. Part A|November 4, 2004
Two sisters with Silver-Russell phenotypeKatrin Ounap, Tiia Reimand, Marja-Liis Mägi, et al.
Pediatric Neurology|March 25, 2008
Girl with partial Turner syndrome and absence epilepsyHelen Puusepp, Riina Zordania, Mare Paal, et al.
Journal of Inherited Metabolic Disease|February 13, 2010
Classical galactosemia in Estonia: selective neonatal screening, incidence, and genotype/phenotype data of diagnosed patientsKatrin Ounap, Kairit Joost, Triinu Temberg, et al.
American Journal of Medical Genetics. Part A|August 12, 2005
A new case of 2q duplication supports either a locus for orofacial clefting between markers D2S1897 and D2S2023 or a locus for cleft palate only on chromosome 2q13-q21Katrin Ounap, Tiiu Ilus, Piret Laidre, et al.
Pediatric Neurology|May 7, 2005
A female with Angelman syndrome and unusual limb deformitiesEve Oiglane-Shlik, Reet Rein, Vallo Tillmann, et al.
Community Genetics|July 13, 2004
Parents' satisfaction with medical and social assistance provided to children with Down syndrome: experience in EstoniaTiia Reimand, Oivi Uibo, Riina Zordania, et al.
Journal of Child Neurology|December 17, 2008
Prevalence of the fragile X syndrome among Estonian mentally retarded and the entire children's populationHelen Puusepp, Tiina Kahre, Hiljar Sibul, et al.
Journal of Community Genetics|March 31, 2012
Prospective experience with contingent screening strategy for Down syndrome in EstoniaKai Muru, Mari Sitska, Karin Asser, et al.
Pageof 4

Showing results (1-10 of 38) with videos related to

Sort By:
Pageof 4
American Journal of Medical Genetics. Part A|March 29, 2005
A girl with inverted triplication of chromosome 3q25.3 --> q29 and multiple congenital anomalies consistent with 3q duplication syndromeKatrin Ounap, Tiiu Ilus, Oliver Bartsch
American Journal of Medical Genetics|March 29, 2002
Girl with combined cellular immunodeficiency, pancytopenia, malformations, deletion 11q23.3 --> qter, and trisomy 8q24.3 --> qterKatrin Ounap, Oliver Bartsch, Oivi Uibo, et al.
American Journal of Medical Genetics. Part A|November 4, 2004
Two sisters with Silver-Russell phenotypeKatrin Ounap, Tiia Reimand, Marja-Liis Mägi, et al.
Pediatric Neurology|March 25, 2008
Girl with partial Turner syndrome and absence epilepsyHelen Puusepp, Riina Zordania, Mare Paal, et al.
Journal of Inherited Metabolic Disease|February 13, 2010
Classical galactosemia in Estonia: selective neonatal screening, incidence, and genotype/phenotype data of diagnosed patientsKatrin Ounap, Kairit Joost, Triinu Temberg, et al.
American Journal of Medical Genetics. Part A|August 12, 2005
A new case of 2q duplication supports either a locus for orofacial clefting between markers D2S1897 and D2S2023 or a locus for cleft palate only on chromosome 2q13-q21Katrin Ounap, Tiiu Ilus, Piret Laidre, et al.
Pediatric Neurology|May 7, 2005
A female with Angelman syndrome and unusual limb deformitiesEve Oiglane-Shlik, Reet Rein, Vallo Tillmann, et al.
Community Genetics|July 13, 2004
Parents' satisfaction with medical and social assistance provided to children with Down syndrome: experience in EstoniaTiia Reimand, Oivi Uibo, Riina Zordania, et al.
Journal of Child Neurology|December 17, 2008
Prevalence of the fragile X syndrome among Estonian mentally retarded and the entire children's populationHelen Puusepp, Tiina Kahre, Hiljar Sibul, et al.
Journal of Community Genetics|March 31, 2012
Prospective experience with contingent screening strategy for Down syndrome in EstoniaKai Muru, Mari Sitska, Karin Asser, et al.
Pageof 4