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Showing results (261-270 of 426) with videos related to

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European Journal of Human Genetics : EJHG|October 22, 1998
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophiesJ M Rozet, S Gerber, E Souied, et al.
Nature Genetics|May 20, 1998
SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)V Belin, V Cusin, G Viot, et al.
American Journal of Human Genetics|October 3, 2000
Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathyI Valnot, S Osmond, N Gigarel, et al.
Molecular Genetics and Metabolism|October 21, 1999
Leber congenital amaurosisI Perrault, J M Rozet, S Gerber, et al.
Journal of Medical Genetics|June 30, 2000
Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locusJ M Rozet, S Gerber, I Ghazi, et al.
The Journal of Clinical Investigation|September 1, 1996
Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy associationL Bürglen, J Amiel, L Viollet, et al.
Clinical Genetics|July 3, 1998
Wilms' tumor and gonadal dysgenesis in a child with the 2q37.1 deletion syndromeG Viot-Szoboszlai, J Amiel, F Doz, et al.
American Journal of Human Genetics|December 1, 1988
Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in FranceF Rey, M Berthelon, C Caillaud, et al.
American Journal of Medical Genetics|July 1, 1993
No evidence for linkage to the type 1 or type 2 neurofibromatosis loci in Noonan syndrome familiesW F Flintoff, M Bahuau, S Lyonnet, et al.
Clinical Dysmorphology|January 11, 2001
Hypertelorism-Microtia-Clefting syndrome (Bixler syndrome): report of two unrelated casesJ Amiel, L Faivre, R Marianowskl, et al.
Pageof 43

Showing results (261-270 of 426) with videos related to

Sort By:
Pageof 43
European Journal of Human Genetics : EJHG|October 22, 1998
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophiesJ M Rozet, S Gerber, E Souied, et al.
Nature Genetics|May 20, 1998
SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)V Belin, V Cusin, G Viot, et al.
American Journal of Human Genetics|October 3, 2000
Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathyI Valnot, S Osmond, N Gigarel, et al.
Molecular Genetics and Metabolism|October 21, 1999
Leber congenital amaurosisI Perrault, J M Rozet, S Gerber, et al.
Journal of Medical Genetics|June 30, 2000
Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locusJ M Rozet, S Gerber, I Ghazi, et al.
The Journal of Clinical Investigation|September 1, 1996
Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy associationL Bürglen, J Amiel, L Viollet, et al.
Clinical Genetics|July 3, 1998
Wilms' tumor and gonadal dysgenesis in a child with the 2q37.1 deletion syndromeG Viot-Szoboszlai, J Amiel, F Doz, et al.
American Journal of Human Genetics|December 1, 1988
Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in FranceF Rey, M Berthelon, C Caillaud, et al.
American Journal of Medical Genetics|July 1, 1993
No evidence for linkage to the type 1 or type 2 neurofibromatosis loci in Noonan syndrome familiesW F Flintoff, M Bahuau, S Lyonnet, et al.
Clinical Dysmorphology|January 11, 2001
Hypertelorism-Microtia-Clefting syndrome (Bixler syndrome): report of two unrelated casesJ Amiel, L Faivre, R Marianowskl, et al.
Pageof 43