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D J Halley

Showing results (81-90 of 96) with videos related to

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Journal of Medical Genetics|April 4, 2000
An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of ItoB H Eussen, G Bartalini, L Bakker, et al.
Journal of Inherited Metabolic Disease|August 1, 1997
Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European originW J Kleijer, J L Keulemans, M van der Kraan, et al.
Archives of Disease in Childhood|July 11, 1998
A prospective 10 year follow up study of patients with neurofibromatosis type 1M H Cnossen, A de Goede-Bolder, K M van den Broek, et al.
American Journal of Human Genetics|October 27, 1997
Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study GroupB B de Vries, A M van den Ouweland, S Mohkamsing, et al.
European Journal of Pediatrics|April 17, 1999
Malignant pancreatic tumour within the spectrum of tuberous sclerosis complex in childhoodS Verhoef, R van Diemen-Steenvoorde, W L Akkersdijk, et al.
American Journal of Human Genetics|May 1, 1996
Mental status of females with an FMR1 gene full mutationB B de Vries, A M Wiegers, A P Smits, et al.
American Journal of Human Genetics|May 20, 1999
High rate of mosaicism in tuberous sclerosis complexS Verhoef, L Bakker, A M Tempelaars, et al.
Human Genetics|May 1, 1995
DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63)A M van den Ouweland, M N van der Est, E Wesby-van Swaay, et al.
Human Mutation|January 1, 1997
Deletions spanning the neurofibromatosis type 1 gene: implications for genotype-phenotype correlations in neurofibromatosis type 1?M H Cnossen, M N van der Est, M H Breuning, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|November 5, 1999
Survival in hereditary breast cancer associated with germline mutations of BRCA2L C Verhoog, C T Brekelmans, C Seynaeve, et al.
Pageof 10

Showing results (81-90 of 96) with videos related to

Sort By:
Pageof 10
Journal of Medical Genetics|April 4, 2000
An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of ItoB H Eussen, G Bartalini, L Bakker, et al.
Journal of Inherited Metabolic Disease|August 1, 1997
Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European originW J Kleijer, J L Keulemans, M van der Kraan, et al.
Archives of Disease in Childhood|July 11, 1998
A prospective 10 year follow up study of patients with neurofibromatosis type 1M H Cnossen, A de Goede-Bolder, K M van den Broek, et al.
American Journal of Human Genetics|October 27, 1997
Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study GroupB B de Vries, A M van den Ouweland, S Mohkamsing, et al.
European Journal of Pediatrics|April 17, 1999
Malignant pancreatic tumour within the spectrum of tuberous sclerosis complex in childhoodS Verhoef, R van Diemen-Steenvoorde, W L Akkersdijk, et al.
American Journal of Human Genetics|May 1, 1996
Mental status of females with an FMR1 gene full mutationB B de Vries, A M Wiegers, A P Smits, et al.
American Journal of Human Genetics|May 20, 1999
High rate of mosaicism in tuberous sclerosis complexS Verhoef, L Bakker, A M Tempelaars, et al.
Human Genetics|May 1, 1995
DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63)A M van den Ouweland, M N van der Est, E Wesby-van Swaay, et al.
Human Mutation|January 1, 1997
Deletions spanning the neurofibromatosis type 1 gene: implications for genotype-phenotype correlations in neurofibromatosis type 1?M H Cnossen, M N van der Est, M H Breuning, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|November 5, 1999
Survival in hereditary breast cancer associated with germline mutations of BRCA2L C Verhoog, C T Brekelmans, C Seynaeve, et al.
Pageof 10