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A Munnich

Showing results (191-200 of 426) with videos related to

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Biochimica Et Biophysica Acta|October 19, 1999
Biochemical, genetic and immunoblot analyses of 17 patients with an isolated cytochrome c oxidase deficiencyJ C von Kleist-Retzow, E Vial, K Chantrel-Groussard, et al.
Human Genetics|August 24, 1999
A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiencyI Valnot, J Kassis, D Chretien, et al.
American Journal of Medical Genetics|May 22, 1995
Craniosynostosis and kidney malformation in a case of Hennekam syndromeV Cormier-Daire, S Lyonnet, A Lehnert, et al.
Journal of Medical Genetics|January 1, 1996
Evidence for a fourth locus in Usher syndrome type IS Gerber, D Larget-Piet, J M Rozet, et al.
European Journal of Pediatrics|December 3, 1998
Prevalence of the microdeletion 22q11 in newborn infants with congenital conotruncal cardiac anomaliesL Iserin, P de Lonlay, G Viot, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|October 12, 2000
[Prenatal diagnosis of autosomal recessive polycystic kidney disease]M F Gagnadoux, T Attié, J Amiel, et al.
Investigative Ophthalmology & Visual Science|May 1, 2001
Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA)J M Rozet, I Perrault, S Gerber, et al.
Journal of Inherited Metabolic Disease|April 5, 2001
Dramatic improvement in mitochondrial cardiomyopathy following treatment with idebenoneT Lerman-Sagie, P Rustin, D Lev, et al.
Annales D'Endocrinologie|July 1, 2005
[The Paris experience in preimplantation genetic diagnosis: evaluation after the first births]N Frydman, S Romana, P Ray, et al.
The Journal of Clinical Investigation|April 29, 1998
Various mechanisms cause RET-mediated signaling defects in Hirschsprung's diseaseA Pelet, O Geneste, P Edery, et al.
Pageof 43

Showing results (191-200 of 426) with videos related to

Sort By:
Pageof 43
Biochimica Et Biophysica Acta|October 19, 1999
Biochemical, genetic and immunoblot analyses of 17 patients with an isolated cytochrome c oxidase deficiencyJ C von Kleist-Retzow, E Vial, K Chantrel-Groussard, et al.
Human Genetics|August 24, 1999
A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiencyI Valnot, J Kassis, D Chretien, et al.
American Journal of Medical Genetics|May 22, 1995
Craniosynostosis and kidney malformation in a case of Hennekam syndromeV Cormier-Daire, S Lyonnet, A Lehnert, et al.
Journal of Medical Genetics|January 1, 1996
Evidence for a fourth locus in Usher syndrome type IS Gerber, D Larget-Piet, J M Rozet, et al.
European Journal of Pediatrics|December 3, 1998
Prevalence of the microdeletion 22q11 in newborn infants with congenital conotruncal cardiac anomaliesL Iserin, P de Lonlay, G Viot, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|October 12, 2000
[Prenatal diagnosis of autosomal recessive polycystic kidney disease]M F Gagnadoux, T Attié, J Amiel, et al.
Investigative Ophthalmology & Visual Science|May 1, 2001
Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA)J M Rozet, I Perrault, S Gerber, et al.
Journal of Inherited Metabolic Disease|April 5, 2001
Dramatic improvement in mitochondrial cardiomyopathy following treatment with idebenoneT Lerman-Sagie, P Rustin, D Lev, et al.
Annales D'Endocrinologie|July 1, 2005
[The Paris experience in preimplantation genetic diagnosis: evaluation after the first births]N Frydman, S Romana, P Ray, et al.
The Journal of Clinical Investigation|April 29, 1998
Various mechanisms cause RET-mediated signaling defects in Hirschsprung's diseaseA Pelet, O Geneste, P Edery, et al.
Pageof 43