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G Brunner

Showing results (441-450 of 727) with videos related to

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Human Molecular Genetics|March 28, 2008
A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromesTuula Rinne, Suzanne E Clements, Evert Lamme, et al.
European Journal of Human Genetics : EJHG|November 1, 2007
Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylationE Morava, D J Lefeber, Z Urban, et al.
Transplantation|September 7, 2001
Graft survival in a rhesus renal transplant model after immunotoxin-mediated T-cell depletion is enhanced by mycophenolate and steroidsJ H Fechner, Y Dong, X Hong, et al.
Human Genetics|June 29, 2004
Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11)Mirjam W J Luijendijk, Erwin Van Wijk, Anne M L C Bischoff, et al.
Human Mutation|May 13, 2008
Genotype-phenotype correlations in MYCN-related Feingold syndromeCarlo L M Marcelis, Frans A Hol, Gail E Graham, et al.
Human Mutation|April 25, 2018
De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disabilityServi J C Stevens, Vyne van der Schoot, Magalie S Leduc, et al.
Journal of Medical Genetics|May 4, 2004
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndromeD Beltran-Valero de Bernabé, T Voit, C Longman, et al.
Lancet (London, England)|June 26, 1999
Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort studyE M Hoogerwaard, E Bakker, P F Ippel, et al.
Nature Genetics|November 13, 2001
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndromeM Tartaglia, E L Mehler, R Goldberg, et al.
The American Journal of Psychiatry|February 13, 2020
Contribution of Intellectual Disability-Related Genes to ADHD Risk and to Locomotor Activity in <i>Drosophila</i>Marieke Klein, Euginia L Singgih, Anne van Rens, et al.
Pageof 73

Showing results (441-450 of 727) with videos related to

Sort By:
Pageof 73
Human Molecular Genetics|March 28, 2008
A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromesTuula Rinne, Suzanne E Clements, Evert Lamme, et al.
European Journal of Human Genetics : EJHG|November 1, 2007
Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylationE Morava, D J Lefeber, Z Urban, et al.
Transplantation|September 7, 2001
Graft survival in a rhesus renal transplant model after immunotoxin-mediated T-cell depletion is enhanced by mycophenolate and steroidsJ H Fechner, Y Dong, X Hong, et al.
Human Genetics|June 29, 2004
Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11)Mirjam W J Luijendijk, Erwin Van Wijk, Anne M L C Bischoff, et al.
Human Mutation|May 13, 2008
Genotype-phenotype correlations in MYCN-related Feingold syndromeCarlo L M Marcelis, Frans A Hol, Gail E Graham, et al.
Human Mutation|April 25, 2018
De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disabilityServi J C Stevens, Vyne van der Schoot, Magalie S Leduc, et al.
Journal of Medical Genetics|May 4, 2004
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndromeD Beltran-Valero de Bernabé, T Voit, C Longman, et al.
Lancet (London, England)|June 26, 1999
Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort studyE M Hoogerwaard, E Bakker, P F Ippel, et al.
Nature Genetics|November 13, 2001
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndromeM Tartaglia, E L Mehler, R Goldberg, et al.
The American Journal of Psychiatry|February 13, 2020
Contribution of Intellectual Disability-Related Genes to ADHD Risk and to Locomotor Activity in <i>Drosophila</i>Marieke Klein, Euginia L Singgih, Anne van Rens, et al.
Pageof 73