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B C Hamel

Showing results (111-120 of 129) with videos related to

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American Journal of Medical Genetics|July 9, 1999
Down syndrome in a population of elderly mentally retarded patients: genetic-diagnostic survey and implications for medical careG J Van Buggenhout, J C Trommelen, A Schoenmaker, et al.
American Journal of Human Genetics|November 1, 1993
Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM)H G Brunner, H T Brüggenwirth, W Nillesen, et al.
American Journal of Human Genetics|November 1, 1994
Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular dataB C Hamel, A P Smits, E de Graaff, et al.
Brain : a Journal of Neurology|October 1, 1991
Myotonic dystrophy. Predictive value of normal results on clinical examinationH G Brunner, H J Smeets, W Nillesen, et al.
Annals of Neurology|October 1, 1992
Familial adult-onset muscular dystrophy with leukoencephalopathyB G van Engelen, Q H Leyten, P L Bernsen, et al.
Journal of Medical Genetics|January 15, 2003
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279WD Ballhausen, L Bonafé, P Terhal, et al.
Clinical Genetics|August 8, 2009
Neuromuscular features in Marfan syndromeN c Voermans, J Timmermans, N van Alfen, et al.
American Journal of Medical Genetics|July 31, 2001
Meier-Gorlin syndrome: report of eight additional cases and reviewE M Bongers, J M Opitz, A Fryer, et al.
American Journal of Medical Genetics|July 9, 1999
Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysisB C Hamel, A P Smits, B van den Helm, et al.
Nature Genetics|October 4, 2000
Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardationK Kutsche, H Yntema, A Brandt, et al.
Pageof 13

Showing results (111-120 of 129) with videos related to

Sort By:
Pageof 13
American Journal of Medical Genetics|July 9, 1999
Down syndrome in a population of elderly mentally retarded patients: genetic-diagnostic survey and implications for medical careG J Van Buggenhout, J C Trommelen, A Schoenmaker, et al.
American Journal of Human Genetics|November 1, 1993
Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM)H G Brunner, H T Brüggenwirth, W Nillesen, et al.
American Journal of Human Genetics|November 1, 1994
Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular dataB C Hamel, A P Smits, E de Graaff, et al.
Brain : a Journal of Neurology|October 1, 1991
Myotonic dystrophy. Predictive value of normal results on clinical examinationH G Brunner, H J Smeets, W Nillesen, et al.
Annals of Neurology|October 1, 1992
Familial adult-onset muscular dystrophy with leukoencephalopathyB G van Engelen, Q H Leyten, P L Bernsen, et al.
Journal of Medical Genetics|January 15, 2003
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279WD Ballhausen, L Bonafé, P Terhal, et al.
Clinical Genetics|August 8, 2009
Neuromuscular features in Marfan syndromeN c Voermans, J Timmermans, N van Alfen, et al.
American Journal of Medical Genetics|July 31, 2001
Meier-Gorlin syndrome: report of eight additional cases and reviewE M Bongers, J M Opitz, A Fryer, et al.
American Journal of Medical Genetics|July 9, 1999
Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysisB C Hamel, A P Smits, B van den Helm, et al.
Nature Genetics|October 4, 2000
Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardationK Kutsche, H Yntema, A Brandt, et al.
Pageof 13