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A Munnich

Showing results (71-80 of 573) with videos related to

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American Journal of Medical Genetics|November 6, 1995
Sternal cleft: case report and review of a series of nine patientsD Héron, S Lyonnet, L Iserin, et al.
American Journal of Medical Genetics|January 1, 1990
Rett phenotype with X/autosome translocation: possible mapping to the short arm of chromosome XH Journel, J Melki, C Turleau, et al.
Journal of Medical Genetics|January 1, 1997
De novo deletions in spinal muscular atrophy: implications for genetic counsellingV Raclin, P S Veber, L Bürglen, et al.
American Journal of Medical Genetics|March 10, 2001
No evidence of unbalanced growth-related gene inheritance in a series of overgrowth syndrome patientsL Faivre, M Vekemans, D Sanlaville, et al.
Comptes Rendus Des Seances De La Societe De Biologie Et De Ses Filiales|January 1, 1994
[Identification of mutation of RET proto-oncogene in Hirschsprung disease]T Attié, P Edery, S Lyonnet, et al.
Human Genetics|December 24, 1997
No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiencyB Parfait, A Percheron, D Chretien, et al.
Lancet (London, England)|December 23, 1995
SMN gene deletions in adult-onset spinal muscular atrophyO Clermont, P Burlet, S Lefebvre, et al.
Brain & Development|November 1, 1992
Deficiency in complex II of the respiratory chain, presenting as a leukodystrophy in two sisters with Leigh syndromeM Burgeois, F Goutieres, D Chretien, et al.
Biochimica Et Biophysica Acta|July 10, 1997
Sequence and structure of the human OXA1L gene and its upstream elementsA Rötig, B Parfait, L Heidet, et al.
American Journal of Medical Genetics|January 2, 1995
Proportions of spontaneous mutations in males and females with ornithine transcarbamylase deficiencyM Tuchman, I Matsuda, A Munnich, et al.
Pageof 58

Showing results (71-80 of 573) with videos related to

Sort By:
Pageof 58
American Journal of Medical Genetics|November 6, 1995
Sternal cleft: case report and review of a series of nine patientsD Héron, S Lyonnet, L Iserin, et al.
American Journal of Medical Genetics|January 1, 1990
Rett phenotype with X/autosome translocation: possible mapping to the short arm of chromosome XH Journel, J Melki, C Turleau, et al.
Journal of Medical Genetics|January 1, 1997
De novo deletions in spinal muscular atrophy: implications for genetic counsellingV Raclin, P S Veber, L Bürglen, et al.
American Journal of Medical Genetics|March 10, 2001
No evidence of unbalanced growth-related gene inheritance in a series of overgrowth syndrome patientsL Faivre, M Vekemans, D Sanlaville, et al.
Comptes Rendus Des Seances De La Societe De Biologie Et De Ses Filiales|January 1, 1994
[Identification of mutation of RET proto-oncogene in Hirschsprung disease]T Attié, P Edery, S Lyonnet, et al.
Human Genetics|December 24, 1997
No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiencyB Parfait, A Percheron, D Chretien, et al.
Lancet (London, England)|December 23, 1995
SMN gene deletions in adult-onset spinal muscular atrophyO Clermont, P Burlet, S Lefebvre, et al.
Brain & Development|November 1, 1992
Deficiency in complex II of the respiratory chain, presenting as a leukodystrophy in two sisters with Leigh syndromeM Burgeois, F Goutieres, D Chretien, et al.
Biochimica Et Biophysica Acta|July 10, 1997
Sequence and structure of the human OXA1L gene and its upstream elementsA Rötig, B Parfait, L Heidet, et al.
American Journal of Medical Genetics|January 2, 1995
Proportions of spontaneous mutations in males and females with ornithine transcarbamylase deficiencyM Tuchman, I Matsuda, A Munnich, et al.
Pageof 58