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Showing results (311-320 of 391) with videos related to

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Human Molecular Genetics|October 22, 2004
Lowering of Pkd1 expression is sufficient to cause polycystic kidney diseaseIrma S Lantinga-van Leeuwen, Johannes G Dauwerse, Hans J Baelde, et al.
American Journal of Human Genetics|February 12, 2005
Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause diseaseJeroen H Roelfsema, Stefan J White, Yavuz Ariyürek, et al.
American Journal of Medical Genetics. Part A|March 16, 2013
GPSM2 and Chudley-McCullough syndrome: a Dutch founder variant brought to North AmericaRowida Almomani, Yu Sun, Emmelien Aten, et al.
European Journal of Endocrinology|February 9, 2007
Growth hormone secretion and immunological function of a male patient with a homozygous STAT5b mutationMarie J E Walenkamp, Solrun Vidarsdottir, Alberto M Pereira, et al.
American Journal of Human Genetics|July 6, 2010
Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA geneYu Sun, Rowida Almomani, Emmelien Aten, et al.
Nature Genetics|May 1, 1997
Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndromeE Rao, B Weiss, M Fukami, et al.
Psycho-Oncology|July 10, 2008
Genetic testing in familial melanoma: uptake and implicationsFemke A de Snoo, Samantha R Riedijk, Anneke M van Mil, et al.
Blood Cells, Molecules & Diseases|January 28, 2003
Dominant hemochromatosis due to N144H mutation of SLC11A3: clinical and biological characteristicsOmer T Njajou, Gerard de Jong, Bianca Berghuis, et al.
Prenatal Diagnosis|July 23, 1999
First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysisB B de Vries, W J Kleijer, J L Keulemans, et al.
Science (New York, N.Y.)|May 31, 1996
PKD2, a gene for polycystic kidney disease that encodes an integral membrane proteinT Mochizuki, G Wu, T Hayashi, et al.
Pageof 40

Showing results (311-320 of 391) with videos related to

Sort By:
Pageof 40
Human Molecular Genetics|October 22, 2004
Lowering of Pkd1 expression is sufficient to cause polycystic kidney diseaseIrma S Lantinga-van Leeuwen, Johannes G Dauwerse, Hans J Baelde, et al.
American Journal of Human Genetics|February 12, 2005
Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause diseaseJeroen H Roelfsema, Stefan J White, Yavuz Ariyürek, et al.
American Journal of Medical Genetics. Part A|March 16, 2013
GPSM2 and Chudley-McCullough syndrome: a Dutch founder variant brought to North AmericaRowida Almomani, Yu Sun, Emmelien Aten, et al.
European Journal of Endocrinology|February 9, 2007
Growth hormone secretion and immunological function of a male patient with a homozygous STAT5b mutationMarie J E Walenkamp, Solrun Vidarsdottir, Alberto M Pereira, et al.
American Journal of Human Genetics|July 6, 2010
Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA geneYu Sun, Rowida Almomani, Emmelien Aten, et al.
Nature Genetics|May 1, 1997
Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndromeE Rao, B Weiss, M Fukami, et al.
Psycho-Oncology|July 10, 2008
Genetic testing in familial melanoma: uptake and implicationsFemke A de Snoo, Samantha R Riedijk, Anneke M van Mil, et al.
Blood Cells, Molecules & Diseases|January 28, 2003
Dominant hemochromatosis due to N144H mutation of SLC11A3: clinical and biological characteristicsOmer T Njajou, Gerard de Jong, Bianca Berghuis, et al.
Prenatal Diagnosis|July 23, 1999
First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysisB B de Vries, W J Kleijer, J L Keulemans, et al.
Science (New York, N.Y.)|May 31, 1996
PKD2, a gene for polycystic kidney disease that encodes an integral membrane proteinT Mochizuki, G Wu, T Hayashi, et al.
Pageof 40