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Sabine Uhrig

Showing results (1-10 of 14) with videos related to

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Gynakologisch-Geburtshilfliche Rundschau|February 3, 2007
[Genetic counseling in multiple pregnancies]Sabine Uhrig, Jochen B Geigl, Michael R Speicher
Nature Protocols|April 5, 2007
Multiplex-fluorescence in situ hybridization for chromosome karyotypingJochen B Geigl, Sabine Uhrig, Michael R Speicher
European Journal of Gastroenterology & Hepatology|May 24, 2012
Manifestations of juvenile polyposis syndrome in SMAD4 mutation carriers of a kindredVerena Schwetz, Sabine Uhrig, Ekkehard Spuller, et al.
Paediatric Respiratory Reviews|July 6, 2014
Congenital pulmonary lymphangiectasisFriedrich Reiterer, Karin Grossauer, Nicholas Morris, et al.
BMC Medical Genetics|July 27, 2012
Left ventricular hypertrabeculation/noncompaction with epilepsy, other heart defects, minor facial anomalies and new copy number variantsBert Nagel, Ursula Gruber-Sedlmayr, Sabine Uhrig, et al.
American Journal of Medical Genetics. Part A|June 29, 2010
Pheochromocytoma in a 2.75-year-old-girl with a germline von Hippel-Lindau mutation Q164RPetra Sovinz, Christian Urban, Sabine Uhrig, et al.
Annals of Neurology|May 10, 2018
De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathyPaolo Ambrosino, Maria Virginia Soldovieri, Thomas Bast, et al.
American Journal of Human Genetics|January 20, 2005
PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndromeDelphine Trochet, Louise M O'Brien, David Gozal, et al.
Human Genetics|January 6, 2006
Micro-array analyses decipher exceptional complex familial chromosomal rearrangementChristine Fauth, Susan M Gribble, Keith M Porter, et al.
Journal of Medical Genetics|January 17, 2014
A novel immunodeficiency syndrome associated with partial trisomy 19p13Markus G Seidel, Celia Duerr, Stavroula Woutsas, et al.
Pageof 2

Showing results (1-10 of 14) with videos related to

Sort By:
Pageof 2
Gynakologisch-Geburtshilfliche Rundschau|February 3, 2007
[Genetic counseling in multiple pregnancies]Sabine Uhrig, Jochen B Geigl, Michael R Speicher
Nature Protocols|April 5, 2007
Multiplex-fluorescence in situ hybridization for chromosome karyotypingJochen B Geigl, Sabine Uhrig, Michael R Speicher
European Journal of Gastroenterology & Hepatology|May 24, 2012
Manifestations of juvenile polyposis syndrome in SMAD4 mutation carriers of a kindredVerena Schwetz, Sabine Uhrig, Ekkehard Spuller, et al.
Paediatric Respiratory Reviews|July 6, 2014
Congenital pulmonary lymphangiectasisFriedrich Reiterer, Karin Grossauer, Nicholas Morris, et al.
BMC Medical Genetics|July 27, 2012
Left ventricular hypertrabeculation/noncompaction with epilepsy, other heart defects, minor facial anomalies and new copy number variantsBert Nagel, Ursula Gruber-Sedlmayr, Sabine Uhrig, et al.
American Journal of Medical Genetics. Part A|June 29, 2010
Pheochromocytoma in a 2.75-year-old-girl with a germline von Hippel-Lindau mutation Q164RPetra Sovinz, Christian Urban, Sabine Uhrig, et al.
Annals of Neurology|May 10, 2018
De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathyPaolo Ambrosino, Maria Virginia Soldovieri, Thomas Bast, et al.
American Journal of Human Genetics|January 20, 2005
PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndromeDelphine Trochet, Louise M O'Brien, David Gozal, et al.
Human Genetics|January 6, 2006
Micro-array analyses decipher exceptional complex familial chromosomal rearrangementChristine Fauth, Susan M Gribble, Keith M Porter, et al.
Journal of Medical Genetics|January 17, 2014
A novel immunodeficiency syndrome associated with partial trisomy 19p13Markus G Seidel, Celia Duerr, Stavroula Woutsas, et al.
Pageof 2