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Katrin Ounap

Showing results (21-30 of 38) with videos related to

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International Journal of Pediatric Otorhinolaryngology|November 26, 2008
Splice variant IVS2-2A>G in the SLC26A5 (Prestin) gene in five Estonian families with hearing lossRita Teek, Eneli Oitmaa, Katrin Kruustük, et al.
International Journal of Pediatric Otorhinolaryngology|August 17, 2010
Prevalence of c.35delG and p.M34T mutations in the GJB2 gene in EstoniaRita Teek, Katrin Kruustük, Riina Zordania, et al.
American Journal of Medical Genetics. Part A|December 4, 2004
MECP2 mutation analysis in patients with mental retardationTero Ylisaukko-Oja, Karola Rehnström, Raija Vanhala, et al.
Molecular Genetics & Genomic Medicine|April 2, 2014
Chromosomal microarray analysis as a first-tier clinical diagnostic test: Estonian experienceOlga Zilina, Rita Teek, Pille Tammur, et al.
American Journal of Medical Genetics. Part A|August 15, 2006
Prevalence of Angelman syndrome and Prader-Willi syndrome in Estonian children: sister syndromes not equally representedEve Oiglane-Shlik, Tiina Talvik, Riina Zordania, et al.
American Journal of Medical Genetics. Part A|February 14, 2006
Characterization of two supernumerary marker chromosomes in a patient with signs of Klinefelter syndrome, mild facial anomalies, and severe speech delayJörg Weimer, Simone Metzke-Heidemann, Hansjörg Plendl, et al.
American Journal of Medical Genetics. Part A|July 21, 2004
Subtelomere FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33Sabine Walter, Klaus Sandig, Georg K Hinkel, et al.
Prenatal Diagnosis|October 16, 2010
Molecular diagnosis of Down syndrome using quantitative APEX-2 microarraysEneli Oitmaa, Maire Peters, Kadri Vaidla, et al.
European Journal of Medical Genetics|November 30, 2010
A parallel SNP array study of genomic aberrations associated with mental retardation in patients and general population in EstoniaKatrin Männik, Sven Parkel, Priit Palta, et al.
Journal of Child Neurology|December 20, 2013
De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disordersUlvi Vaher, Margit Nõukas, Tiit Nikopensius, et al.
Pageof 4

Showing results (21-30 of 38) with videos related to

Sort By:
Pageof 4
International Journal of Pediatric Otorhinolaryngology|November 26, 2008
Splice variant IVS2-2A>G in the SLC26A5 (Prestin) gene in five Estonian families with hearing lossRita Teek, Eneli Oitmaa, Katrin Kruustük, et al.
International Journal of Pediatric Otorhinolaryngology|August 17, 2010
Prevalence of c.35delG and p.M34T mutations in the GJB2 gene in EstoniaRita Teek, Katrin Kruustük, Riina Zordania, et al.
American Journal of Medical Genetics. Part A|December 4, 2004
MECP2 mutation analysis in patients with mental retardationTero Ylisaukko-Oja, Karola Rehnström, Raija Vanhala, et al.
Molecular Genetics & Genomic Medicine|April 2, 2014
Chromosomal microarray analysis as a first-tier clinical diagnostic test: Estonian experienceOlga Zilina, Rita Teek, Pille Tammur, et al.
American Journal of Medical Genetics. Part A|August 15, 2006
Prevalence of Angelman syndrome and Prader-Willi syndrome in Estonian children: sister syndromes not equally representedEve Oiglane-Shlik, Tiina Talvik, Riina Zordania, et al.
American Journal of Medical Genetics. Part A|February 14, 2006
Characterization of two supernumerary marker chromosomes in a patient with signs of Klinefelter syndrome, mild facial anomalies, and severe speech delayJörg Weimer, Simone Metzke-Heidemann, Hansjörg Plendl, et al.
American Journal of Medical Genetics. Part A|July 21, 2004
Subtelomere FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33Sabine Walter, Klaus Sandig, Georg K Hinkel, et al.
Prenatal Diagnosis|October 16, 2010
Molecular diagnosis of Down syndrome using quantitative APEX-2 microarraysEneli Oitmaa, Maire Peters, Kadri Vaidla, et al.
European Journal of Medical Genetics|November 30, 2010
A parallel SNP array study of genomic aberrations associated with mental retardation in patients and general population in EstoniaKatrin Männik, Sven Parkel, Priit Palta, et al.
Journal of Child Neurology|December 20, 2013
De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disordersUlvi Vaher, Margit Nõukas, Tiit Nikopensius, et al.
Pageof 4