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Journal of Medical Genetics
|
January 1, 1996
Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex
R Vrtel, S Verhoef, K Bouman, et al.
Epilepsy Research
|
September 28, 2002
No evidence for a susceptibility locus for idiopathic generalized epilepsy on chromosome 5 in families with typical absence seizures
C Windemuth, H Schulz, K Saar, et al.
Nature Genetics
|
October 3, 1999
Familial endometrial cancer in female carriers of MSH6 germline mutations
J Wijnen, W de Leeuw, H Vasen, et al.
Cell
|
November 1, 1996
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4
R A Ophoff, G M Terwindt, M N Vergouwe, et al.
Epilepsia
|
October 9, 2002
ILAE genetics commission conference report: molecular analysis of complex genetic epilepsies
E Anderson, S Berkovic, O Dulac, et al.
American Journal of Human Genetics
|
February 1, 1996
Majority of hMLH1 mutations responsible for hereditary nonpolyposis colorectal cancer cluster at the exonic region 15-16
J Wijnen, P M Khan, H Vasen, et al.
American Journal of Medical Genetics
|
June 27, 1997
The Dutch Uniform Multicenter Registration system for genetic disorders and malformation syndromes
A M Zwamborn-Hanssen, J B Bijlsma, E F Hennekam, et al.
Journal of Medical Genetics
|
May 23, 2001
Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree
A Wagner, Y Hendriks, E J Meijers-Heijboer, et al.
Epilepsy Research
|
February 16, 2010
Whole-genome linkage scan for epilepsy-related photosensitivity: a mega-analysis
C G F de Kovel, D Pinto, U Tauer, et al.
Neurogenetics
|
July 3, 2017
Male patients affected by mosaic PCDH19 mutations: five new cases
I M de Lange, P Rump, R F Neuteboom, et al.
Page
of 13
Search research articles
Search
Showing results (111-120 of 123) with videos related to
Sort By:
Page
of 13
Journal of Medical Genetics
|
January 1, 1996
Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex
R Vrtel, S Verhoef, K Bouman, et al.
Epilepsy Research
|
September 28, 2002
No evidence for a susceptibility locus for idiopathic generalized epilepsy on chromosome 5 in families with typical absence seizures
C Windemuth, H Schulz, K Saar, et al.
Nature Genetics
|
October 3, 1999
Familial endometrial cancer in female carriers of MSH6 germline mutations
J Wijnen, W de Leeuw, H Vasen, et al.
Cell
|
November 1, 1996
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4
R A Ophoff, G M Terwindt, M N Vergouwe, et al.
Epilepsia
|
October 9, 2002
ILAE genetics commission conference report: molecular analysis of complex genetic epilepsies
E Anderson, S Berkovic, O Dulac, et al.
American Journal of Human Genetics
|
February 1, 1996
Majority of hMLH1 mutations responsible for hereditary nonpolyposis colorectal cancer cluster at the exonic region 15-16
J Wijnen, P M Khan, H Vasen, et al.
American Journal of Medical Genetics
|
June 27, 1997
The Dutch Uniform Multicenter Registration system for genetic disorders and malformation syndromes
A M Zwamborn-Hanssen, J B Bijlsma, E F Hennekam, et al.
Journal of Medical Genetics
|
May 23, 2001
Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree
A Wagner, Y Hendriks, E J Meijers-Heijboer, et al.
Epilepsy Research
|
February 16, 2010
Whole-genome linkage scan for epilepsy-related photosensitivity: a mega-analysis
C G F de Kovel, D Pinto, U Tauer, et al.
Neurogenetics
|
July 3, 2017
Male patients affected by mosaic PCDH19 mutations: five new cases
I M de Lange, P Rump, R F Neuteboom, et al.
Page
of 13