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H Scheffer

Showing results (121-130 of 154) with videos related to

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Journal of Medical Genetics|November 14, 1997
The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocolA J van Essen, A L Kneppers, A H van der Hout, et al.
The Journal of Investigative Dermatology|November 1, 1996
Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplexM F Jonkman, K Heeres, H H Pas, et al.
Clinical Genetics|March 19, 2010
A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrumJ Van Reeuwijk, M J W Olderode-Berends, C Van den Elzen, et al.
European Journal of Human Genetics : EJHG|January 1, 1996
Prenatal prediction of spinal muscular atrophy. Experience with linkage studies and consequences of present SMN deletion analysisJ M Cobben, H Scheffer, M De Visser, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|September 20, 2008
Association of the dopamine transporter (SLC6A3/DAT1) gene 9-6 haplotype with adult ADHDB Franke, M Hoogman, A Arias Vasquez, 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.
Medical and Pediatric Oncology|January 1, 1994
A giant congenital orbital tumor: an unusual presentation of retinoblastomaC M Zwaan, F C de Waal, F D Koole, et al.
Journal of Neurology|October 31, 2012
ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromesS T de Bot, J H Veldink, S Vermeer, et al.
Journal of Neurology|June 26, 2008
A natural history study of late onset spinal muscular atrophy types 3b and 4S Piepers, L H van den Berg, F Brugman, et al.
DNA and Cell Biology|January 1, 1997
Human uteroglobin gene: structure, subchromosomal localization, and polymorphismZ Zhang, D B Zimonjic, N C Popescu, et al.
Pageof 16

Showing results (121-130 of 154) with videos related to

Sort By:
Pageof 16
Journal of Medical Genetics|November 14, 1997
The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocolA J van Essen, A L Kneppers, A H van der Hout, et al.
The Journal of Investigative Dermatology|November 1, 1996
Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplexM F Jonkman, K Heeres, H H Pas, et al.
Clinical Genetics|March 19, 2010
A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrumJ Van Reeuwijk, M J W Olderode-Berends, C Van den Elzen, et al.
European Journal of Human Genetics : EJHG|January 1, 1996
Prenatal prediction of spinal muscular atrophy. Experience with linkage studies and consequences of present SMN deletion analysisJ M Cobben, H Scheffer, M De Visser, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|September 20, 2008
Association of the dopamine transporter (SLC6A3/DAT1) gene 9-6 haplotype with adult ADHDB Franke, M Hoogman, A Arias Vasquez, 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.
Medical and Pediatric Oncology|January 1, 1994
A giant congenital orbital tumor: an unusual presentation of retinoblastomaC M Zwaan, F C de Waal, F D Koole, et al.
Journal of Neurology|October 31, 2012
ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromesS T de Bot, J H Veldink, S Vermeer, et al.
Journal of Neurology|June 26, 2008
A natural history study of late onset spinal muscular atrophy types 3b and 4S Piepers, L H van den Berg, F Brugman, et al.
DNA and Cell Biology|January 1, 1997
Human uteroglobin gene: structure, subchromosomal localization, and polymorphismZ Zhang, D B Zimonjic, N C Popescu, et al.
Pageof 16