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A Munnich

Showing results (141-150 of 573) with videos related to

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Advances in Nephrology From the Necker Hospital|January 1, 1995
Kidney involvement in mitochondrial disordersA Rötig, A Lehnert, P Rustin, et al.
Genomics|August 1, 1993
Physical and genetic localization of the gamma subunit of the cyclic GMP phosphodiesterase on the long arm of chromosome 17 (17q25)H Dollfus, M G Mattei, J M Rozet, et al.
Journal of Medical Genetics|April 1, 1996
Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann diseaseP Burlet, L Bürglen, O Clermont, et al.
Pediatric Research|January 1, 1982
Defective insulin response to intravenous glucose in congenital lactic acidosisF X Coude, H Ogier, A Munnich, et al.
Pediatric Pulmonology. Supplement|January 1, 1997
Prenatal diagnosis of cystic fibrosisJ P Bonnefont, L Thuillier, N Gigarel, et al.
Human Mutation|February 6, 1998
Novel intragenic deletions and point mutations of the ornithine transcarbamylase gene in congenital hyperammonemiaP Calvas, B Ségues, J M Rozet, et al.
Journal of Medical Genetics|May 5, 1999
Tricuspid atresia and conotruncal malformations in five familiesD Bonnet, L Fermont, J Kachaner, et al.
Pediatrics|December 1, 1981
Secondary citrullinemia with hyperammonemia in four neonatal cases of pyruvate carboxylase deficiencyF X Coude, H Ogier, C Marsac, et al.
American Journal of Medical Genetics|May 3, 1996
Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfismJ Bonaventure, F Rousseau, L Legeai-Mallet, et al.
Deutsche Medizinische Wochenschrift (1946)|April 1, 2000
[Friedreich ataxia. 3 years after the identification of the gene a glimmer of hope for therapy]J C von Kleist-Retzow, K Chantrel-Groussard, A Rötig, et al.
Pageof 58

Showing results (141-150 of 573) with videos related to

Sort By:
Pageof 58
Advances in Nephrology From the Necker Hospital|January 1, 1995
Kidney involvement in mitochondrial disordersA Rötig, A Lehnert, P Rustin, et al.
Genomics|August 1, 1993
Physical and genetic localization of the gamma subunit of the cyclic GMP phosphodiesterase on the long arm of chromosome 17 (17q25)H Dollfus, M G Mattei, J M Rozet, et al.
Journal of Medical Genetics|April 1, 1996
Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann diseaseP Burlet, L Bürglen, O Clermont, et al.
Pediatric Research|January 1, 1982
Defective insulin response to intravenous glucose in congenital lactic acidosisF X Coude, H Ogier, A Munnich, et al.
Pediatric Pulmonology. Supplement|January 1, 1997
Prenatal diagnosis of cystic fibrosisJ P Bonnefont, L Thuillier, N Gigarel, et al.
Human Mutation|February 6, 1998
Novel intragenic deletions and point mutations of the ornithine transcarbamylase gene in congenital hyperammonemiaP Calvas, B Ségues, J M Rozet, et al.
Journal of Medical Genetics|May 5, 1999
Tricuspid atresia and conotruncal malformations in five familiesD Bonnet, L Fermont, J Kachaner, et al.
Pediatrics|December 1, 1981
Secondary citrullinemia with hyperammonemia in four neonatal cases of pyruvate carboxylase deficiencyF X Coude, H Ogier, C Marsac, et al.
American Journal of Medical Genetics|May 3, 1996
Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfismJ Bonaventure, F Rousseau, L Legeai-Mallet, et al.
Deutsche Medizinische Wochenschrift (1946)|April 1, 2000
[Friedreich ataxia. 3 years after the identification of the gene a glimmer of hope for therapy]J C von Kleist-Retzow, K Chantrel-Groussard, A Rötig, et al.
Pageof 58