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N H Robin

Showing results (51-60 of 61) with videos related to

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Human Genetics|October 6, 1998
Molecular characterization and delineation of subtle deletions in de novo "balanced" chromosomal rearrangementsA Kumar, L A Becker, T W Depinet, et al.
Human Molecular Genetics|March 1, 1995
Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndromeU Schell, A Hehr, G J Feldman, et al.
American Journal of Human Genetics|April 1, 1995
A gene for cleidocranial dysplasia maps to the short arm of chromosome 6G J Feldman, N H Robin, L A Brueton, et al.
Human Molecular Genetics|December 1, 1994
Linkage of Pfeiffer syndrome to chromosome 8 centromere and evidence for genetic heterogeneityN H Robin, G J Feldman, H F Mitchell, et al.
Archives of Neurology|April 30, 1998
Pendular nystagmus in patients with peroxisomal assembly disorderA A Kori, N H Robin, J B Jacobs, et al.
Nature Genetics|September 1, 1997
Mutations in CDMP1 cause autosomal dominant brachydactyly type CA Polinkovsky, N H Robin, J T Thomas, et al.
Human Genetics|July 4, 2006
A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitusD J G Mackay, S E Boonen, J Clayton-Smith, et al.
Human Molecular Genetics|September 25, 1997
A novel phenotypic pattern in X-linked inheritance: craniofrontonasal syndrome maps to Xp22G J Feldman, D E Ward, E Lajeunie-Renier, et al.
Human Molecular Genetics|November 11, 1999
The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephalyL Nanni, J E Ming, M Bocian, et al.
Nature Genetics|December 1, 1995
Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2N H Robin, G J Feldman, A L Aronson, et al.
Pageof 7

Showing results (51-60 of 61) with videos related to

Sort By:
Pageof 7
Human Genetics|October 6, 1998
Molecular characterization and delineation of subtle deletions in de novo "balanced" chromosomal rearrangementsA Kumar, L A Becker, T W Depinet, et al.
Human Molecular Genetics|March 1, 1995
Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndromeU Schell, A Hehr, G J Feldman, et al.
American Journal of Human Genetics|April 1, 1995
A gene for cleidocranial dysplasia maps to the short arm of chromosome 6G J Feldman, N H Robin, L A Brueton, et al.
Human Molecular Genetics|December 1, 1994
Linkage of Pfeiffer syndrome to chromosome 8 centromere and evidence for genetic heterogeneityN H Robin, G J Feldman, H F Mitchell, et al.
Archives of Neurology|April 30, 1998
Pendular nystagmus in patients with peroxisomal assembly disorderA A Kori, N H Robin, J B Jacobs, et al.
Nature Genetics|September 1, 1997
Mutations in CDMP1 cause autosomal dominant brachydactyly type CA Polinkovsky, N H Robin, J T Thomas, et al.
Human Genetics|July 4, 2006
A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitusD J G Mackay, S E Boonen, J Clayton-Smith, et al.
Human Molecular Genetics|September 25, 1997
A novel phenotypic pattern in X-linked inheritance: craniofrontonasal syndrome maps to Xp22G J Feldman, D E Ward, E Lajeunie-Renier, et al.
Human Molecular Genetics|November 11, 1999
The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephalyL Nanni, J E Ming, M Bocian, et al.
Nature Genetics|December 1, 1995
Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2N H Robin, G J Feldman, A L Aronson, et al.
Pageof 7