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A Munnich

Showing results (331-340 of 426) with videos related to

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Revue Neurologique|April 29, 2014
[Aspect of brain MRI in mitochondrial respiratory chain deficiency. A diagnostic algorithm of the most common mitochondrial genetic mutations]M Devaux-Bricout, D Grévent, A-S Lebre, et al.
American Journal of Medical Genetics|July 23, 1998
Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2V Cormier-Daire, A Superti-Furga, A Munnich, et al.
Journal of Medical Genetics|October 4, 2002
Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1C Thauvin-Robinet, V El Ghouzzi, W Chemaitilly, et al.
American Journal of Medical Genetics|June 27, 2000
Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndromeA L Tellier, J Amiel, A L Delezoide, et al.
American Journal of Medical Genetics|March 10, 2001
Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndromeJ Amiel, T Attieé-Bitach, R Marianowski, et al.
European Journal of Pediatrics|February 9, 1999
The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemiaB Parfait, P de Lonlay, J C von Kleist-Retzow, et al.
Journal of Hepatology|September 1, 1995
Mitochondrial respiratory chain defect: a new etiology for neonatal cholestasis and early liver insufficiencyI Goncalves, D Hermans, D Chretien, et al.
European Journal of Human Genetics : EJHG|January 1, 1994
Origins of hyperphenylalaninemia in IsraelS Kleiman, S Avigad, L Vanagaite, et al.
Journal of Medical Genetics|March 2, 1999
A new lethal syndrome of exomphalos, short limbs, and macrogonadismL Faivre, A L Delezoide, F Narcy, et al.
Journal of Medical Genetics|January 8, 2009
19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisationV Malan, O Raoul, H V Firth, et al.
Pageof 43

Showing results (331-340 of 426) with videos related to

Sort By:
Pageof 43
Revue Neurologique|April 29, 2014
[Aspect of brain MRI in mitochondrial respiratory chain deficiency. A diagnostic algorithm of the most common mitochondrial genetic mutations]M Devaux-Bricout, D Grévent, A-S Lebre, et al.
American Journal of Medical Genetics|July 23, 1998
Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2V Cormier-Daire, A Superti-Furga, A Munnich, et al.
Journal of Medical Genetics|October 4, 2002
Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1C Thauvin-Robinet, V El Ghouzzi, W Chemaitilly, et al.
American Journal of Medical Genetics|June 27, 2000
Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndromeA L Tellier, J Amiel, A L Delezoide, et al.
American Journal of Medical Genetics|March 10, 2001
Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndromeJ Amiel, T Attieé-Bitach, R Marianowski, et al.
European Journal of Pediatrics|February 9, 1999
The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemiaB Parfait, P de Lonlay, J C von Kleist-Retzow, et al.
Journal of Hepatology|September 1, 1995
Mitochondrial respiratory chain defect: a new etiology for neonatal cholestasis and early liver insufficiencyI Goncalves, D Hermans, D Chretien, et al.
European Journal of Human Genetics : EJHG|January 1, 1994
Origins of hyperphenylalaninemia in IsraelS Kleiman, S Avigad, L Vanagaite, et al.
Journal of Medical Genetics|March 2, 1999
A new lethal syndrome of exomphalos, short limbs, and macrogonadismL Faivre, A L Delezoide, F Narcy, et al.
Journal of Medical Genetics|January 8, 2009
19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisationV Malan, O Raoul, H V Firth, et al.
Pageof 43