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D J Halley

Showing results (71-80 of 96) with videos related to

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Human Mutation|July 17, 1999
Novel mutations in the LKB1/STK11 gene in Dutch Peutz-Jeghers familiesA M Westerman, M M Entius, P P Boor, et al.
American Journal of Medical Genetics|July 15, 1994
DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 geneA M van den Ouweland, B B de Vries, P L Bakker, et al.
Journal of Inherited Metabolic Disease|June 29, 1999
DNA-based prenatal diagnosis for very-long-chain acyl-CoA dehydrogenase deficiencyB S Andresen, S Olpin, E A Kvittingen, et al.
Prenatal Diagnosis|March 4, 1998
Prospective prenatal investigations on potential uniparental disomy in cases of confined placental trisomyD Van Opstal, C Van den Berg, W H Deelen, et al.
European Journal of Human Genetics : EJHG|January 1, 1993
Mental status and fragile X expression in relation to FMR-1 gene mutationB B de Vries, A M Wiegers, E de Graaff, et al.
Journal of Medical Genetics|June 30, 2000
Screening for the fragile X syndrome among the mentally retarded: a clinical study. The Collaborative Fragile X Study GroupB B de Vries, S Mohkamsing, A M van den Ouweland, et al.
Journal of Medical Genetics|December 1, 1996
Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X familyB B de Vries, C C Jansen, A A Duits, et al.
The New England Journal of Medicine|July 13, 1995
A cystic fibrosis mutation associated with mild lung diseaseK H Gan, H J Veeze, A M van den Ouweland, et al.
Pediatrics|October 2, 1997
Endocrinologic disorders and optic pathway gliomas in children with neurofibromatosis type 1M H Cnossen, E N Stam, L C Cooiman, et al.
Human Mutation|April 24, 1999
Identification of a large insertion and two novel point mutations (3671del8 and S1221X) in tuberous sclerosis complex (TSC) patients. Mutations in brief no. 119. OnlineQ Wang, S Verhoef, A M Tempelaars, et al.
Pageof 10

Showing results (71-80 of 96) with videos related to

Sort By:
Pageof 10
Human Mutation|July 17, 1999
Novel mutations in the LKB1/STK11 gene in Dutch Peutz-Jeghers familiesA M Westerman, M M Entius, P P Boor, et al.
American Journal of Medical Genetics|July 15, 1994
DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 geneA M van den Ouweland, B B de Vries, P L Bakker, et al.
Journal of Inherited Metabolic Disease|June 29, 1999
DNA-based prenatal diagnosis for very-long-chain acyl-CoA dehydrogenase deficiencyB S Andresen, S Olpin, E A Kvittingen, et al.
Prenatal Diagnosis|March 4, 1998
Prospective prenatal investigations on potential uniparental disomy in cases of confined placental trisomyD Van Opstal, C Van den Berg, W H Deelen, et al.
European Journal of Human Genetics : EJHG|January 1, 1993
Mental status and fragile X expression in relation to FMR-1 gene mutationB B de Vries, A M Wiegers, E de Graaff, et al.
Journal of Medical Genetics|June 30, 2000
Screening for the fragile X syndrome among the mentally retarded: a clinical study. The Collaborative Fragile X Study GroupB B de Vries, S Mohkamsing, A M van den Ouweland, et al.
Journal of Medical Genetics|December 1, 1996
Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X familyB B de Vries, C C Jansen, A A Duits, et al.
The New England Journal of Medicine|July 13, 1995
A cystic fibrosis mutation associated with mild lung diseaseK H Gan, H J Veeze, A M van den Ouweland, et al.
Pediatrics|October 2, 1997
Endocrinologic disorders and optic pathway gliomas in children with neurofibromatosis type 1M H Cnossen, E N Stam, L C Cooiman, et al.
Human Mutation|April 24, 1999
Identification of a large insertion and two novel point mutations (3671del8 and S1221X) in tuberous sclerosis complex (TSC) patients. Mutations in brief no. 119. OnlineQ Wang, S Verhoef, A M Tempelaars, et al.
Pageof 10