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B C Hamel

Showing results (81-90 of 129) with videos related to

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American Journal of Medical Genetics|December 1, 1992
False-negative prenatal diagnosis of restrictive dermopathyB C Hamel, R Happle, P M Steylen, et al.
Helvetica Paediatrica Acta|February 1, 1978
Oculocutaneous albinism associated with motor neuron diseaseB C Hamel, R C Sengers, A M Stadhouders, et al.
Nature Genetics|March 1, 1994
A complex bilateral polysyndactyly disease locus maps to chromosome 7q36O Tsukurov, A Boehmer, J Flynn, et al.
Journal of Neurology|November 29, 2005
Recurrent neuropathy associated with Ehlers-Danlos syndromeN C Voermans, G Drost, A van Kampen, et al.
Human Molecular Genetics|April 1, 1995
Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardationD Kotzot, S Schmitt, F Bernasconi, et al.
American Journal of Medical Genetics|February 25, 1998
Pfeiffer syndrome type 2: further delineation and review of the literatureA S Plomp, B C Hamel, J M Cobben, et al.
Annals of the New York Academy of Sciences|June 8, 1996
A mutation in COL9A2 causes multiple epiphyseal dysplasia (EDM2)Y Muragaki, E C Mariman, S E van Beersum, et al.
Case Reports in Genetics|February 25, 2020
A Tanzanian Boy with Molecularly Confirmed X-Linked AdrenoleukodystrophyM C J Dekker, A M Sadiq, R Mc Larty, et al.
Nature Genetics|January 1, 1996
A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2)Y Muragaki, E C Mariman, S E van Beersum, et al.
The British Journal of Dermatology|July 2, 2011
Functional analysis of splice site mutations in the human hairless (HR) gene using a minigene assayM Refke, S M Pasternack, B Fiebig, et al.
Pageof 13

Showing results (81-90 of 129) with videos related to

Sort By:
Pageof 13
American Journal of Medical Genetics|December 1, 1992
False-negative prenatal diagnosis of restrictive dermopathyB C Hamel, R Happle, P M Steylen, et al.
Helvetica Paediatrica Acta|February 1, 1978
Oculocutaneous albinism associated with motor neuron diseaseB C Hamel, R C Sengers, A M Stadhouders, et al.
Nature Genetics|March 1, 1994
A complex bilateral polysyndactyly disease locus maps to chromosome 7q36O Tsukurov, A Boehmer, J Flynn, et al.
Journal of Neurology|November 29, 2005
Recurrent neuropathy associated with Ehlers-Danlos syndromeN C Voermans, G Drost, A van Kampen, et al.
Human Molecular Genetics|April 1, 1995
Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardationD Kotzot, S Schmitt, F Bernasconi, et al.
American Journal of Medical Genetics|February 25, 1998
Pfeiffer syndrome type 2: further delineation and review of the literatureA S Plomp, B C Hamel, J M Cobben, et al.
Annals of the New York Academy of Sciences|June 8, 1996
A mutation in COL9A2 causes multiple epiphyseal dysplasia (EDM2)Y Muragaki, E C Mariman, S E van Beersum, et al.
Case Reports in Genetics|February 25, 2020
A Tanzanian Boy with Molecularly Confirmed X-Linked AdrenoleukodystrophyM C J Dekker, A M Sadiq, R Mc Larty, et al.
Nature Genetics|January 1, 1996
A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2)Y Muragaki, E C Mariman, S E van Beersum, et al.
The British Journal of Dermatology|July 2, 2011
Functional analysis of splice site mutations in the human hairless (HR) gene using a minigene assayM Refke, S M Pasternack, B Fiebig, et al.
Pageof 13