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K Ounap

Showing results (11-20 of 19) with videos related to

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JIMD Reports|February 23, 2013
Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in EstoniaK Joost, K Ounap, R Zordania, et al.
Molecular Syndromology|December 23, 2011
Whole Xp Deletion in a Girl with Mental Retardation, Epilepsy, and Biochemical Features of OTC DeficiencyK Joost, P Tammur, R Teek, et al.
American Journal of Medical Genetics. Part A|November 23, 2011
Maternally and paternally inherited deletion of 7q31 involving the FOXP2 gene in two familiesO Zilina, T Reimand, P Zjablovskaja, et al.
Molecular Syndromology|November 1, 2012
A Diagnostic Algorithm for Mitochondrial Disorders in Estonian ChildrenK Joost, R J Rodenburg, A Piirsoo, et al.
Advances in Medical Sciences|November 14, 2013
Hearing impairment in Estonia: an algorithm to investigate genetic causes in pediatric patientsR Teek, K Kruustük, R Žordania, et al.
Journal of Medical Genetics|December 11, 2008
Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypesD Bartholdi, M Krajewska-Walasek, K Ounap, et al.
Journal of Medical Genetics|April 18, 2009
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcomeB W M van Bon, H C Mefford, B Menten, et al.
Journal of Medical Genetics|May 7, 2013
Phenotype and genotype in 101 males with X-linked creatine transporter deficiencyJ M van de Kamp, O T Betsalel, S Mercimek-Mahmutoglu, et al.
Nature|February 5, 2010
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2R G Walters, S Jacquemont, A Valsesia, et al.
Pageof 2

Showing results (11-20 of 19) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 19 results.
JIMD Reports|February 23, 2013
Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in EstoniaK Joost, K Ounap, R Zordania, et al.
Molecular Syndromology|December 23, 2011
Whole Xp Deletion in a Girl with Mental Retardation, Epilepsy, and Biochemical Features of OTC DeficiencyK Joost, P Tammur, R Teek, et al.
American Journal of Medical Genetics. Part A|November 23, 2011
Maternally and paternally inherited deletion of 7q31 involving the FOXP2 gene in two familiesO Zilina, T Reimand, P Zjablovskaja, et al.
Molecular Syndromology|November 1, 2012
A Diagnostic Algorithm for Mitochondrial Disorders in Estonian ChildrenK Joost, R J Rodenburg, A Piirsoo, et al.
Advances in Medical Sciences|November 14, 2013
Hearing impairment in Estonia: an algorithm to investigate genetic causes in pediatric patientsR Teek, K Kruustük, R Žordania, et al.
Journal of Medical Genetics|December 11, 2008
Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypesD Bartholdi, M Krajewska-Walasek, K Ounap, et al.
Journal of Medical Genetics|April 18, 2009
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcomeB W M van Bon, H C Mefford, B Menten, et al.
Journal of Medical Genetics|May 7, 2013
Phenotype and genotype in 101 males with X-linked creatine transporter deficiencyJ M van de Kamp, O T Betsalel, S Mercimek-Mahmutoglu, et al.
Nature|February 5, 2010
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2R G Walters, S Jacquemont, A Valsesia, et al.
Pageof 2