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H G Brunner

Showing results (111-120 of 179) with videos related to

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American Journal of Human Genetics|July 1, 1992
Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3)I Bach, H G Brunner, P Beighton, et al.
American Journal of Human Genetics|March 21, 2000
Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 geneM Melkoniemi, H G Brunner, S Manouvrier, et al.
Human Molecular Genetics|July 1, 1994
X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletionsI Huber, M Bitner-Glindzicz, Y J de Kok, et al.
The Journal of Clinical Investigation|February 15, 1996
Specific genetic deficiencies of the A and B isoenzymes of monoamine oxidase are characterized by distinct neurochemical and clinical phenotypesJ W Lenders, G Eisenhofer, N G Abeling, et al.
Clinical Genetics|September 14, 2007
Pure subtelomeric microduplications as a cause of mental retardationE M Ruiter, D A Koolen, T Kleefstra, 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.
Molecular Syndromology|July 22, 2010
Severe Progressive Autism Associated with Two de novo Changes: A 2.6-Mb 2q31.1 Deletion and a Balanced t(14;21)(q21.1;p11.2) Translocation with Long-Range Epigenetic Silencing of LRFN5 ExpressionD R H de Bruijn, A H A van Dijk, R Pfundt, et al.
Human Molecular Genetics|August 1, 1994
Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndromeH H Lemmink, T Mochizuki, L P van den Heuvel, et al.
Journal of Medical Genetics|December 1, 1992
Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndromeE J Meijers-Heijboer, L A Sandkuijl, H G Brunner, 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.
Pageof 18

Showing results (111-120 of 179) with videos related to

Sort By:
Pageof 18
American Journal of Human Genetics|July 1, 1992
Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3)I Bach, H G Brunner, P Beighton, et al.
American Journal of Human Genetics|March 21, 2000
Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 geneM Melkoniemi, H G Brunner, S Manouvrier, et al.
Human Molecular Genetics|July 1, 1994
X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletionsI Huber, M Bitner-Glindzicz, Y J de Kok, et al.
The Journal of Clinical Investigation|February 15, 1996
Specific genetic deficiencies of the A and B isoenzymes of monoamine oxidase are characterized by distinct neurochemical and clinical phenotypesJ W Lenders, G Eisenhofer, N G Abeling, et al.
Clinical Genetics|September 14, 2007
Pure subtelomeric microduplications as a cause of mental retardationE M Ruiter, D A Koolen, T Kleefstra, 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.
Molecular Syndromology|July 22, 2010
Severe Progressive Autism Associated with Two de novo Changes: A 2.6-Mb 2q31.1 Deletion and a Balanced t(14;21)(q21.1;p11.2) Translocation with Long-Range Epigenetic Silencing of LRFN5 ExpressionD R H de Bruijn, A H A van Dijk, R Pfundt, et al.
Human Molecular Genetics|August 1, 1994
Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndromeH H Lemmink, T Mochizuki, L P van den Heuvel, et al.
Journal of Medical Genetics|December 1, 1992
Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndromeE J Meijers-Heijboer, L A Sandkuijl, H G Brunner, 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.
Pageof 18