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A Munnich

Showing results (241-250 of 426) with videos related to

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Journal Francais D'Ophtalmologie|January 1, 1997
[Positive diagnosis of Leber's hereditary optic neuropathy using molecular genetics]E Souied, P J Pisella, B Ossareh, et al.
FEBS Letters|September 23, 1985
Transient transcriptional inhibition of the transferrin gene by cyclic AMPD Tuil, S Vaulont, M J Levin, et al.
The British Journal of Dermatology|March 13, 2010
Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia casesN Chassaing, C Cluzeau, E Bal, et al.
European Journal of Pediatrics|March 1, 1994
Liver cytochrome c oxidase deficiency in a case of neonatal-onset hepatic failureP Edery, B Gérard, D Chretien, et al.
Molecular Genetics and Metabolism|October 24, 2007
Variable outcome of growth hormone administration in respiratory chain deficiencyS Romano, D Samara, H Crosnier, et al.
Human Genetics|December 1, 1994
Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 casesP Labrune, A Myara, M Hadchouel, et al.
Clinical Dysmorphology|October 23, 2001
Absent lacrimal ducts, distichiasis, dysmorphic features, and brachydactyly: a case reportM Holder-Espinasse, M C de Blois, L Faivre, et al.
Journal De La Societe De Biologie|April 28, 2001
[Molecular genetics of Hirschsprung disease: a model of multigenic neurocristopathy]J Amiel, R Salomon, T Attié-Bitach, et al.
The Journal of Pediatrics|August 1, 1992
Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosisJ P Bonnefont, D Chretien, P Rustin, et al.
Cytogenetics and Cell Genetics|December 5, 1998
Structure and refinement of the physical mapping of the gamma- glutamylcysteine ligase regulatory subunit (GLCLR) gene to chromosome 1p22.1 within the critically deleted region of human malignant mesotheliomaJ M Rozet, S Gerber, I Perrault, et al.
Pageof 43

Showing results (241-250 of 426) with videos related to

Sort By:
Pageof 43
Journal Francais D'Ophtalmologie|January 1, 1997
[Positive diagnosis of Leber's hereditary optic neuropathy using molecular genetics]E Souied, P J Pisella, B Ossareh, et al.
FEBS Letters|September 23, 1985
Transient transcriptional inhibition of the transferrin gene by cyclic AMPD Tuil, S Vaulont, M J Levin, et al.
The British Journal of Dermatology|March 13, 2010
Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia casesN Chassaing, C Cluzeau, E Bal, et al.
European Journal of Pediatrics|March 1, 1994
Liver cytochrome c oxidase deficiency in a case of neonatal-onset hepatic failureP Edery, B Gérard, D Chretien, et al.
Molecular Genetics and Metabolism|October 24, 2007
Variable outcome of growth hormone administration in respiratory chain deficiencyS Romano, D Samara, H Crosnier, et al.
Human Genetics|December 1, 1994
Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 casesP Labrune, A Myara, M Hadchouel, et al.
Clinical Dysmorphology|October 23, 2001
Absent lacrimal ducts, distichiasis, dysmorphic features, and brachydactyly: a case reportM Holder-Espinasse, M C de Blois, L Faivre, et al.
Journal De La Societe De Biologie|April 28, 2001
[Molecular genetics of Hirschsprung disease: a model of multigenic neurocristopathy]J Amiel, R Salomon, T Attié-Bitach, et al.
The Journal of Pediatrics|August 1, 1992
Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosisJ P Bonnefont, D Chretien, P Rustin, et al.
Cytogenetics and Cell Genetics|December 5, 1998
Structure and refinement of the physical mapping of the gamma- glutamylcysteine ligase regulatory subunit (GLCLR) gene to chromosome 1p22.1 within the critically deleted region of human malignant mesotheliomaJ M Rozet, S Gerber, I Perrault, et al.
Pageof 43