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C Hamel

Showing results (271-280 of 291) with videos related to

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American Journal of Medical Genetics|July 9, 1999
X-linked mental retardation: evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric regionH G Yntema, B van den Helm, N V Knoers, et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation|March 5, 2010
Recurrent and founder mutations in the Netherlands: Extensive clinical variability in Marfan syndrome patients with a single novel recurrent fibrillin-1 missense mutationJ J J Aalberts, A G Schuurman, G Pals, et al.
American Journal of Human Genetics|February 11, 1999
Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27H van Bokhoven, M Jung, A P Smits, et al.
Bioorganic & Medicinal Chemistry|November 17, 2001
Carbon-carbon-linked (pyrazolylphenyl)oxazolidinones with antibacterial activity against multiple drug resistant gram-positive and fastidious gram-negative bacteriaC S Lee, D A Allwine, M R Barbachyn, 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.
Journal of Medicinal Chemistry|December 19, 1998
Nitrogen-carbon-linked (azolylphenyl)oxazolidinones with potent antibacterial activity against the fastidious gram-negative organisms Haemophilus influenzae and Moraxella catarrhalisM J Genin, D K Hutchinson, D A Allwine, et al.
The Journal of Clinical Endocrinology and Metabolism|July 18, 2014
Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndromeA Kemal Topaloglu, Alejandro Lomniczi, Doris Kretzschmar, et al.
Cell|October 27, 1999
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndromeJ Celli, P Duijf, B C Hamel, et al.
Human Mutation|October 2, 2010
The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive familyYvonne Hilhorst-Hofstee, Marry E B Rijlaarsdam, Arthur J H A Scholte, et al.
Human Molecular Genetics|February 13, 2001
Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63J A McGrath, P H Duijf, V Doetsch, et al.
Pageof 30

Showing results (271-280 of 291) with videos related to

Sort By:
Pageof 30
American Journal of Medical Genetics|July 9, 1999
X-linked mental retardation: evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric regionH G Yntema, B van den Helm, N V Knoers, et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation|March 5, 2010
Recurrent and founder mutations in the Netherlands: Extensive clinical variability in Marfan syndrome patients with a single novel recurrent fibrillin-1 missense mutationJ J J Aalberts, A G Schuurman, G Pals, et al.
American Journal of Human Genetics|February 11, 1999
Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27H van Bokhoven, M Jung, A P Smits, et al.
Bioorganic & Medicinal Chemistry|November 17, 2001
Carbon-carbon-linked (pyrazolylphenyl)oxazolidinones with antibacterial activity against multiple drug resistant gram-positive and fastidious gram-negative bacteriaC S Lee, D A Allwine, M R Barbachyn, 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.
Journal of Medicinal Chemistry|December 19, 1998
Nitrogen-carbon-linked (azolylphenyl)oxazolidinones with potent antibacterial activity against the fastidious gram-negative organisms Haemophilus influenzae and Moraxella catarrhalisM J Genin, D K Hutchinson, D A Allwine, et al.
The Journal of Clinical Endocrinology and Metabolism|July 18, 2014
Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndromeA Kemal Topaloglu, Alejandro Lomniczi, Doris Kretzschmar, et al.
Cell|October 27, 1999
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndromeJ Celli, P Duijf, B C Hamel, et al.
Human Mutation|October 2, 2010
The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive familyYvonne Hilhorst-Hofstee, Marry E B Rijlaarsdam, Arthur J H A Scholte, et al.
Human Molecular Genetics|February 13, 2001
Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63J A McGrath, P H Duijf, V Doetsch, et al.
Pageof 30