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Human Genetics
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October 28, 2008
Identification of copy number variants associated with BPES-like phenotypes
Antoinet C J Gijsbers, Barbara D'haene, Yvonne Hilhorst-Hofstee, et al.
Frontiers in Aging Neuroscience
|
March 15, 2021
The Listening Network and Cochlear Implant Benefits in Hearing-Impaired Adults
Chris J James, Petra L Graham, Frank A Betances Reinoso, et al.
American Journal of Human Genetics
|
October 27, 1997
A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2)
B Veldhuisen, J J Saris, S de Haij, et al.
European Journal of Human Genetics : EJHG
|
November 11, 2010
The clinical spectrum of complete FBN1 allele deletions
Yvonne Hilhorst-Hofstee, Ben C J Hamel, Joke B G M Verheij, et al.
Clinical Genetics
|
May 22, 2010
X-chromosome duplications in males with mental retardation: pathogenic or benign variants?
A C J Gijsbers, N S den Hollander, A T J M Helderman-van de Enden, et al.
Plos One
|
May 11, 2012
Myocardial structural alteration and systolic dysfunction in preclinical hypertrophic cardiomyopathy mutation carriers
Kai Hang Yiu, Douwe E Atsma, Victoria Delgado, et al.
Neurobiology of Disease
|
October 21, 1999
Targeted disruption of the Cln3 gene provides a mouse model for Batten disease. The Batten Mouse Model Consortium [corrected]
H M Mitchison, D J Bernard, N D Greene, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
|
November 5, 2008
Increased risk of cancer other than melanoma in CDKN2A founder mutation (p16-Leiden)-positive melanoma families
Femke A de Snoo, D Timothy Bishop, Wilma Bergman, et al.
Familial Cancer
|
March 15, 2016
Hereditary cancer registries improve the care of patients with a genetic predisposition to cancer: contributions from the Dutch Lynch syndrome registry
Hans F A Vasen, Mary E Velthuizen, Jan H Kleibeuker, et al.
Kidney International
|
April 12, 2000
Location of mutations within the PKD2 gene influences clinical outcome
N Hateboer, B Veldhuisen, D Peters, et al.
Page
of 40
Search research articles
Search
Showing results (331-340 of 391) with videos related to
Sort By:
Page
of 40
Human Genetics
|
October 28, 2008
Identification of copy number variants associated with BPES-like phenotypes
Antoinet C J Gijsbers, Barbara D'haene, Yvonne Hilhorst-Hofstee, et al.
Frontiers in Aging Neuroscience
|
March 15, 2021
The Listening Network and Cochlear Implant Benefits in Hearing-Impaired Adults
Chris J James, Petra L Graham, Frank A Betances Reinoso, et al.
American Journal of Human Genetics
|
October 27, 1997
A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2)
B Veldhuisen, J J Saris, S de Haij, et al.
European Journal of Human Genetics : EJHG
|
November 11, 2010
The clinical spectrum of complete FBN1 allele deletions
Yvonne Hilhorst-Hofstee, Ben C J Hamel, Joke B G M Verheij, et al.
Clinical Genetics
|
May 22, 2010
X-chromosome duplications in males with mental retardation: pathogenic or benign variants?
A C J Gijsbers, N S den Hollander, A T J M Helderman-van de Enden, et al.
Plos One
|
May 11, 2012
Myocardial structural alteration and systolic dysfunction in preclinical hypertrophic cardiomyopathy mutation carriers
Kai Hang Yiu, Douwe E Atsma, Victoria Delgado, et al.
Neurobiology of Disease
|
October 21, 1999
Targeted disruption of the Cln3 gene provides a mouse model for Batten disease. The Batten Mouse Model Consortium [corrected]
H M Mitchison, D J Bernard, N D Greene, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
|
November 5, 2008
Increased risk of cancer other than melanoma in CDKN2A founder mutation (p16-Leiden)-positive melanoma families
Femke A de Snoo, D Timothy Bishop, Wilma Bergman, et al.
Familial Cancer
|
March 15, 2016
Hereditary cancer registries improve the care of patients with a genetic predisposition to cancer: contributions from the Dutch Lynch syndrome registry
Hans F A Vasen, Mary E Velthuizen, Jan H Kleibeuker, et al.
Kidney International
|
April 12, 2000
Location of mutations within the PKD2 gene influences clinical outcome
N Hateboer, B Veldhuisen, D Peters, et al.
Page
of 40