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A Munnich

Showing results (111-120 of 573) with videos related to

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American Journal of Human Genetics|April 1, 1991
mtDNA heteroplasmy in Leber hereditary optic neuroretinopathyV Cormier, A Rötig, C Geny, et al.
Neuroimage|March 10, 2004
Anatomical and functional brain imaging evidence of lenticulo-insular anomalies in Smith Magenis syndromeN Boddaert, H De Leersnyder, M Bourgeois, et al.
Journal of Medical Genetics|July 29, 1999
Epiphyseal, vertebral, and ear (EVE) dysplasia: a new syndrome?J Amiel, V Cormier-Daire, P Journeau, et al.
The Journal of Biological Chemistry|September 1, 1995
In vitro splicing deficiency induced by a C to T mutation at position -3 in the intron 10 acceptor site of the phenylalanine hydroxylase gene in a patient with phenylketonuriaJ Jaruzelska, V Abadie, Y d'Aubenton-Carafa, et al.
Lancet (London, England)|January 19, 1985
Detection of phenylalanine hydroxylase messenger RNA in liver biopsy samples from patients with phenylketonuriaA G DiLella, F D Ledley, F Rey, et al.
Mechanisms of Ageing and Development|May 10, 2000
For debate: defective mitochondria, free radicals, cell death, aging-reality or myth-ochondria?P Rustin, J C von Kleist-Retzow, Z Vajo, et al.
Gynecologie, Obstetrique & Fertilite|May 17, 2005
[Pre-implantation genetic diagnosis and spontaneous pregnancies: an unexpected acting out]M Flis-Trèves, N Frydman, R Frydman, et al.
The Journal of Biological Chemistry|August 25, 1984
In vivo hormonal control of L-type pyruvate kinase gene expression. Effects of glucagon, cyclic AMP, insulin, cortisone, and thyroid hormones on the dietary induction of mRNAs in the liverA Munnich, J Marie, G Reach, et al.
Journal of Medical Genetics|February 9, 1999
Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutationE Lajeunie, V El Ghouzzi, M Le Merrer, et al.
Biochemical Medicine and Metabolic Biology|August 1, 1993
Investigation of respiratory chain activity in human heartP Rustin, D Chretien, T Bourgeron, et al.
Pageof 58

Showing results (111-120 of 573) with videos related to

Sort By:
Pageof 58
American Journal of Human Genetics|April 1, 1991
mtDNA heteroplasmy in Leber hereditary optic neuroretinopathyV Cormier, A Rötig, C Geny, et al.
Neuroimage|March 10, 2004
Anatomical and functional brain imaging evidence of lenticulo-insular anomalies in Smith Magenis syndromeN Boddaert, H De Leersnyder, M Bourgeois, et al.
Journal of Medical Genetics|July 29, 1999
Epiphyseal, vertebral, and ear (EVE) dysplasia: a new syndrome?J Amiel, V Cormier-Daire, P Journeau, et al.
The Journal of Biological Chemistry|September 1, 1995
In vitro splicing deficiency induced by a C to T mutation at position -3 in the intron 10 acceptor site of the phenylalanine hydroxylase gene in a patient with phenylketonuriaJ Jaruzelska, V Abadie, Y d'Aubenton-Carafa, et al.
Lancet (London, England)|January 19, 1985
Detection of phenylalanine hydroxylase messenger RNA in liver biopsy samples from patients with phenylketonuriaA G DiLella, F D Ledley, F Rey, et al.
Mechanisms of Ageing and Development|May 10, 2000
For debate: defective mitochondria, free radicals, cell death, aging-reality or myth-ochondria?P Rustin, J C von Kleist-Retzow, Z Vajo, et al.
Gynecologie, Obstetrique & Fertilite|May 17, 2005
[Pre-implantation genetic diagnosis and spontaneous pregnancies: an unexpected acting out]M Flis-Trèves, N Frydman, R Frydman, et al.
The Journal of Biological Chemistry|August 25, 1984
In vivo hormonal control of L-type pyruvate kinase gene expression. Effects of glucagon, cyclic AMP, insulin, cortisone, and thyroid hormones on the dietary induction of mRNAs in the liverA Munnich, J Marie, G Reach, et al.
Journal of Medical Genetics|February 9, 1999
Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutationE Lajeunie, V El Ghouzzi, M Le Merrer, et al.
Biochemical Medicine and Metabolic Biology|August 1, 1993
Investigation of respiratory chain activity in human heartP Rustin, D Chretien, T Bourgeron, et al.
Pageof 58