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A Munnich

Showing results (131-140 of 573) with videos related to

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Journal of Medical Genetics|May 4, 2004
Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMDZ U Borochowitz, D Scheffer, V Adir, et al.
Journal of Medical Genetics|January 1, 1992
Blepharophimosis, eczema, and growth and developmental delay in a young adult: late features of Dubowitz syndrome?S Lyonnet, G Schwartz, G Gatin, et al.
Annales De Dermatologie Et De Venereologie|November 7, 1998
[Angiomatous and cerulodermic macules: early cutaneous signs of neurofibromatosis type I]P Vabres, P de Lonlay, J Amiel, et al.
Nature Genetics|February 1, 1995
FGFR2 mutations in Pfeiffer syndromeE Lajeunie, H W Ma, J Bonaventure, et al.
Journal of Medical Genetics|January 1, 1991
Two distinct mutations at a single BamHI site in phenylketonuriaD Melle, P Verelst, F Rey, et al.
Lancet (London, England)|August 27, 1988
Guthrie cards for detection of point mutations in phenylketonuriaS Lyonnet, C Caillaud, F Rey, et al.
The EMBO Journal|October 1, 1985
Dependence of hepatocyte-specific gene expression on cell-cell interactions in primary cultureJ M Fraslin, B Kneip, S Vaulont, et al.
Human Molecular Genetics|May 1, 1994
A novel arginine (245) to glutamine change in exon 8 of the ornithine carbamoyl transferase gene in two unrelated children presenting with late onset deficiency and showing the same enzymatic patternB Gilbert-Dussardier, D Rabier, S Strautnieks, et al.
Human Molecular Genetics|December 1, 1993
Dinucleotide repeat polymorphism at the human protein C inhibitor (PCI) locusD Larget-Piet, J M Rozet, S Gerber, et al.
European Journal of Human Genetics : EJHG|August 31, 2001
TP63 gene mutation in ADULT syndromeJ Amiel, G Bougeard, C Francannet, et al.
Pageof 58

Showing results (131-140 of 573) with videos related to

Sort By:
Pageof 58
Journal of Medical Genetics|May 4, 2004
Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMDZ U Borochowitz, D Scheffer, V Adir, et al.
Journal of Medical Genetics|January 1, 1992
Blepharophimosis, eczema, and growth and developmental delay in a young adult: late features of Dubowitz syndrome?S Lyonnet, G Schwartz, G Gatin, et al.
Annales De Dermatologie Et De Venereologie|November 7, 1998
[Angiomatous and cerulodermic macules: early cutaneous signs of neurofibromatosis type I]P Vabres, P de Lonlay, J Amiel, et al.
Nature Genetics|February 1, 1995
FGFR2 mutations in Pfeiffer syndromeE Lajeunie, H W Ma, J Bonaventure, et al.
Journal of Medical Genetics|January 1, 1991
Two distinct mutations at a single BamHI site in phenylketonuriaD Melle, P Verelst, F Rey, et al.
Lancet (London, England)|August 27, 1988
Guthrie cards for detection of point mutations in phenylketonuriaS Lyonnet, C Caillaud, F Rey, et al.
The EMBO Journal|October 1, 1985
Dependence of hepatocyte-specific gene expression on cell-cell interactions in primary cultureJ M Fraslin, B Kneip, S Vaulont, et al.
Human Molecular Genetics|May 1, 1994
A novel arginine (245) to glutamine change in exon 8 of the ornithine carbamoyl transferase gene in two unrelated children presenting with late onset deficiency and showing the same enzymatic patternB Gilbert-Dussardier, D Rabier, S Strautnieks, et al.
Human Molecular Genetics|December 1, 1993
Dinucleotide repeat polymorphism at the human protein C inhibitor (PCI) locusD Larget-Piet, J M Rozet, S Gerber, et al.
European Journal of Human Genetics : EJHG|August 31, 2001
TP63 gene mutation in ADULT syndromeJ Amiel, G Bougeard, C Francannet, et al.
Pageof 58