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A Munnich

Showing results (91-100 of 573) with videos related to

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Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|May 26, 2004
[Diagnostic approach in patients with severe and syndromic mental retardation]M Rio, L Colleaux, D Sanlaville, et al.
European Journal of Pediatrics|March 1, 1993
Uridine preserves the expression of respiratory enzyme deficiencies in cultured fibroblastsB Gérard, T Bourgeron, D Chretien, et al.
Human Molecular Genetics|July 1, 1993
Dinucleotide repeat polymorphism at the human recoverin RCVI gene locus on chromosome 17pH Dollfus, J M Rozet, M A Musarella, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV|July 20, 2018
First homozygous large deletion in EDARADD gene associated with a severe form of anhidrotic ectodermal dysplasiaC Cluzeau, S Marrakchi, C Picard, et al.
American Journal of Medical Genetics. Part A|May 13, 2005
Long-term follow-up in a patient with metatropic dysplasiaD Geneviève, M Le Merrer, A Munnich, et al.
Molecular Genetics and Metabolism|September 10, 1999
The mutant genotype is the main determinant of the metabolic phenotype in phenylalanine hydroxylase deficiencyP Bénit, F Rey, F Blandin-Savoja, et al.
Genomics|January 1, 1992
Clinical and genetic heterogeneity of Charcot-Marie-Tooth diseaseA Hentati, C Lamy, J Melki, et al.
Annales De Medecine Interne|January 1, 1980
[Alopecia, chronic candidodis, mental retardation and repeated ketoacidosic comas curable by biotin administration: multiple carboxylases deficiency (author's transl)]A Munnich, J M Saudubray, H Ogier, et al.
European Journal of Pediatrics|April 1, 1996
Clinical presentations and laboratory investigations in respiratory chain deficiencyA Munnich, A Rötig, D Chretien, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|July 1, 1994
Reference charts for respiratory chain activities in human tissuesD Chretien, P Rustin, T Bourgeron, et al.
Pageof 58

Showing results (91-100 of 573) with videos related to

Sort By:
Pageof 58
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|May 26, 2004
[Diagnostic approach in patients with severe and syndromic mental retardation]M Rio, L Colleaux, D Sanlaville, et al.
European Journal of Pediatrics|March 1, 1993
Uridine preserves the expression of respiratory enzyme deficiencies in cultured fibroblastsB Gérard, T Bourgeron, D Chretien, et al.
Human Molecular Genetics|July 1, 1993
Dinucleotide repeat polymorphism at the human recoverin RCVI gene locus on chromosome 17pH Dollfus, J M Rozet, M A Musarella, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV|July 20, 2018
First homozygous large deletion in EDARADD gene associated with a severe form of anhidrotic ectodermal dysplasiaC Cluzeau, S Marrakchi, C Picard, et al.
American Journal of Medical Genetics. Part A|May 13, 2005
Long-term follow-up in a patient with metatropic dysplasiaD Geneviève, M Le Merrer, A Munnich, et al.
Molecular Genetics and Metabolism|September 10, 1999
The mutant genotype is the main determinant of the metabolic phenotype in phenylalanine hydroxylase deficiencyP Bénit, F Rey, F Blandin-Savoja, et al.
Genomics|January 1, 1992
Clinical and genetic heterogeneity of Charcot-Marie-Tooth diseaseA Hentati, C Lamy, J Melki, et al.
Annales De Medecine Interne|January 1, 1980
[Alopecia, chronic candidodis, mental retardation and repeated ketoacidosic comas curable by biotin administration: multiple carboxylases deficiency (author's transl)]A Munnich, J M Saudubray, H Ogier, et al.
European Journal of Pediatrics|April 1, 1996
Clinical presentations and laboratory investigations in respiratory chain deficiencyA Munnich, A Rötig, D Chretien, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|July 1, 1994
Reference charts for respiratory chain activities in human tissuesD Chretien, P Rustin, T Bourgeron, et al.
Pageof 58