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A Munnich

Showing results (201-210 of 426) with videos related to

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Mammalian Genome : Official Journal of the International Mammalian Genome Society|September 29, 1999
Conservation of the Caenorhabditis elegans timing gene clk-1 from yeast to human: a gene required for ubiquinone biosynthesis with potential implications for agingZ Vajo, L M King, T Jonassen, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|March 4, 2000
[Carbohydrate-deficient blood glycoprotein syndrome]P de Lonlay, V Cormier-Daire, S Vuillaumier-Barrot, et al.
Pediatrics|February 2, 1999
Hair and skin disorders as signs of mitochondrial diseaseC Bodemer, A Rötig, P Rustin, et al.
American Journal of Medical Genetics|March 13, 1995
Upper limb malformations in DiGeorge syndromeV Cormier-Daire, L Iserin, D Théophile, et al.
Human Genetics|March 1, 1997
An extension of the admixture test for the study of genetic heterogeneity in hereditary multiple exostosesL Legeai-Mallet, P Margaritte-Jeannin, M Lemdani, et al.
The Journal of Pediatrics|October 13, 2001
Pierre Robin sequence: a series of 117 consecutive casesM Holder-Espinasse, V Abadie, V Cormier-Daire, et al.
Prenatal Diagnosis|February 17, 2001
First specific preimplantation genetic diagnosis for ornithine transcarbamylase deficiencyP F Ray, N Gigarel, J P Bonnefont, et al.
Neuromuscular Disorders : NMD|July 1, 1995
Cytochrome c oxidase deficiency presenting as recurrent neonatal myoglobinuriaP Saunier, D Chretien, C Wood, et al.
American Journal of Human Genetics|January 1, 1997
The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann diseaseL Bürglen, T Seroz, P Miniou, et al.
Journal of Clinical Immunology|January 1, 1982
Biotin-responsive immunoregulatory dysfunction in multiple carboxylase deficiencyA Fischer, A Munnich, J M Saudubray, et al.
Pageof 43

Showing results (201-210 of 426) with videos related to

Sort By:
Pageof 43
Mammalian Genome : Official Journal of the International Mammalian Genome Society|September 29, 1999
Conservation of the Caenorhabditis elegans timing gene clk-1 from yeast to human: a gene required for ubiquinone biosynthesis with potential implications for agingZ Vajo, L M King, T Jonassen, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|March 4, 2000
[Carbohydrate-deficient blood glycoprotein syndrome]P de Lonlay, V Cormier-Daire, S Vuillaumier-Barrot, et al.
Pediatrics|February 2, 1999
Hair and skin disorders as signs of mitochondrial diseaseC Bodemer, A Rötig, P Rustin, et al.
American Journal of Medical Genetics|March 13, 1995
Upper limb malformations in DiGeorge syndromeV Cormier-Daire, L Iserin, D Théophile, et al.
Human Genetics|March 1, 1997
An extension of the admixture test for the study of genetic heterogeneity in hereditary multiple exostosesL Legeai-Mallet, P Margaritte-Jeannin, M Lemdani, et al.
The Journal of Pediatrics|October 13, 2001
Pierre Robin sequence: a series of 117 consecutive casesM Holder-Espinasse, V Abadie, V Cormier-Daire, et al.
Prenatal Diagnosis|February 17, 2001
First specific preimplantation genetic diagnosis for ornithine transcarbamylase deficiencyP F Ray, N Gigarel, J P Bonnefont, et al.
Neuromuscular Disorders : NMD|July 1, 1995
Cytochrome c oxidase deficiency presenting as recurrent neonatal myoglobinuriaP Saunier, D Chretien, C Wood, et al.
American Journal of Human Genetics|January 1, 1997
The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann diseaseL Bürglen, T Seroz, P Miniou, et al.
Journal of Clinical Immunology|January 1, 1982
Biotin-responsive immunoregulatory dysfunction in multiple carboxylase deficiencyA Fischer, A Munnich, J M Saudubray, et al.
Pageof 43