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Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

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JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

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H G Brunner

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Journal of Molecular Medicine (Berlin, Germany)|January 11, 2007

A novel locus for autosomal recessive nonsyndromic hearing impairment, DFNB63, maps to chromosome 11q13.2-q13.4E Kalay, R Caylan, A F Kiroglu, et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology|December 22, 2007

The impact of a false-positive MRI on the choice for mastectomy in BRCA mutation carriers is limitedN Hoogerbrugge, Y J L Kamm, P Bult, et al.

Genomics|September 19, 2003

Cloning, characterization, and mRNA expression analysis of novel human fetal cochlear cDNAsM W J Luijendijk, T J R van de Pol, G van Duijnhoven, et al.

Clinical Genetics|April 11, 2014

De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotypeM Roifman, C L M Marcelis, T Paton, et al.

Neurology|April 26, 2001

Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain diseaseB Cormand, H Pihko, M Bayés, et al.

Journal of Medical Genetics|November 25, 2003

A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotypeD Beltrán-Valero de Bernabé, H van Bokhoven, E van Beusekom, et al.

Journal of Medical Genetics|September 10, 2003

A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated populationS Yzer, L I van den Born, J Schuil, et al.

Journal of Medical Genetics|June 19, 2002

Mutation analysis in the candidate Möbius syndrome genes PGT and GATA2 on chromosome 3 and EGR2 on chromosome 10B Van Der Zwaag, H T F M Verzijl, D Beltran-Valero De Bernabe, 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.

Journal of Medical Genetics|February 24, 2001

Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2, DCN, EPS8, and RPL6A Ion, A H Crosby, H Kremer, et al.

Pageof 18

Search research articles

Showing results (121-130 of 179) with videos related to

Sort By:

Pageof 18

Journal of Molecular Medicine (Berlin, Germany)|January 11, 2007

A novel locus for autosomal recessive nonsyndromic hearing impairment, DFNB63, maps to chromosome 11q13.2-q13.4E Kalay, R Caylan, A F Kiroglu, et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology|December 22, 2007

The impact of a false-positive MRI on the choice for mastectomy in BRCA mutation carriers is limitedN Hoogerbrugge, Y J L Kamm, P Bult, et al.

Genomics|September 19, 2003

Cloning, characterization, and mRNA expression analysis of novel human fetal cochlear cDNAsM W J Luijendijk, T J R van de Pol, G van Duijnhoven, et al.

Clinical Genetics|April 11, 2014

De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotypeM Roifman, C L M Marcelis, T Paton, et al.

Neurology|April 26, 2001

Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain diseaseB Cormand, H Pihko, M Bayés, et al.

Journal of Medical Genetics|November 25, 2003

A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotypeD Beltrán-Valero de Bernabé, H van Bokhoven, E van Beusekom, et al.

Journal of Medical Genetics|September 10, 2003

Journal of Medical Genetics|June 19, 2002

Mutation analysis in the candidate Möbius syndrome genes PGT and GATA2 on chromosome 3 and EGR2 on chromosome 10B Van Der Zwaag, H T F M Verzijl, D Beltran-Valero De Bernabe, 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.

Journal of Medical Genetics|February 24, 2001

Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2, DCN, EPS8, and RPL6A Ion, A H Crosby, H Kremer, et al.

Pageof 18