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H G Brunner

Showing results (141-150 of 179) with videos related to

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Nature Genetics|September 1, 1997
Mutations in CDMP1 cause autosomal dominant brachydactyly type CA Polinkovsky, N H Robin, J T Thomas, et al.
Cytogenetic and Genome Research|September 29, 2007
Variation of CNV distribution in five different ethnic populationsS J White, L E L M Vissers, A Geurts van Kessel, et al.
Clinical Genetics|January 6, 2011
Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletionsM H Willemsen, G Beunders, M Callaghan, et al.
Genomics|January 25, 2000
A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardationH G Yntema, B van den Helm, J Kissing, et al.
Clinical Genetics|November 22, 2008
CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndromeM C J Jongmans, C M A van Ravenswaaij-Arts, N Pitteloud, et al.
Human Molecular Genetics|February 5, 1999
A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defectsY J de Kok, S J Bom, T M Brunt, et al.
Journal of Medical Genetics|May 17, 2005
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndromeJ van Reeuwijk, M Janssen, C van den Elzen, et al.
American Journal of Human Genetics|March 26, 1999
The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt diseaseA Maugeri, M A van Driel, D J van de Pol, et al.
Journal of Medical Genetics|December 14, 2004
Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA)D A Koolen, W M Nillesen, M H A Versteeg, et al.
Nature Genetics|March 18, 1999
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesisY Gong, D Krakow, J Marcelino, et al.
Pageof 18

Showing results (141-150 of 179) with videos related to

Sort By:
Pageof 18
Nature Genetics|September 1, 1997
Mutations in CDMP1 cause autosomal dominant brachydactyly type CA Polinkovsky, N H Robin, J T Thomas, et al.
Cytogenetic and Genome Research|September 29, 2007
Variation of CNV distribution in five different ethnic populationsS J White, L E L M Vissers, A Geurts van Kessel, et al.
Clinical Genetics|January 6, 2011
Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletionsM H Willemsen, G Beunders, M Callaghan, et al.
Genomics|January 25, 2000
A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardationH G Yntema, B van den Helm, J Kissing, et al.
Clinical Genetics|November 22, 2008
CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndromeM C J Jongmans, C M A van Ravenswaaij-Arts, N Pitteloud, et al.
Human Molecular Genetics|February 5, 1999
A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defectsY J de Kok, S J Bom, T M Brunt, et al.
Journal of Medical Genetics|May 17, 2005
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndromeJ van Reeuwijk, M Janssen, C van den Elzen, et al.
American Journal of Human Genetics|March 26, 1999
The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt diseaseA Maugeri, M A van Driel, D J van de Pol, et al.
Journal of Medical Genetics|December 14, 2004
Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA)D A Koolen, W M Nillesen, M H A Versteeg, et al.
Nature Genetics|March 18, 1999
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesisY Gong, D Krakow, J Marcelino, et al.
Pageof 18