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A Munnich

Showing results (381-390 of 426) with videos related to

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Journal of Medical Genetics|August 19, 2008
A PCSK9 variant and familial combined hyperlipidaemiaM Abifadel, L Bernier, G Dubuc, et al.
Journal of Inherited Metabolic Disease|April 5, 2001
Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chainI Wittig, P Augstein, G K Brown, et al.
Molecular Genetics and Metabolism|August 5, 2008
Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduriaM A Cosson, G Touati, F Lacaille, et al.
JIMD Reports|February 23, 2013
Kinetic analyses guide the therapeutic decision in a novel form of moderate aromatic Acid decarboxylase deficiencyM Barth, V Serre, L Hubert, et al.
Archives of Disease in Childhood|January 24, 2006
Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assaysL Pasquier, V Laugel, L Lazaro, et al.
Biochimica Et Biophysica Acta|February 14, 2012
A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndromeZ Assouline, M Jambou, M Rio, et al.
Prenatal Diagnosis|August 9, 2001
Prenatal diagnosis of respiratory chain deficiency by direct mutation screeningJ Amiel, N Gigarel, A Benacki, et al.
Human Molecular Genetics|January 1, 1997
Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IBG Lévy, F Levi-Acobas, S Blanchard, et al.
Journal of Inherited Metabolic Disease|March 12, 2009
Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B(12)V Valayannopoulos, L Hubert, J F Benoist, et al.
Clinical Genetics|December 1, 1996
Increased paternal age in CHARGE associationA L Tellier, S Lyonnet, V Cormier-Daire, et al.
Pageof 43

Showing results (381-390 of 426) with videos related to

Sort By:
Pageof 43
Journal of Medical Genetics|August 19, 2008
A PCSK9 variant and familial combined hyperlipidaemiaM Abifadel, L Bernier, G Dubuc, et al.
Journal of Inherited Metabolic Disease|April 5, 2001
Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chainI Wittig, P Augstein, G K Brown, et al.
Molecular Genetics and Metabolism|August 5, 2008
Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduriaM A Cosson, G Touati, F Lacaille, et al.
JIMD Reports|February 23, 2013
Kinetic analyses guide the therapeutic decision in a novel form of moderate aromatic Acid decarboxylase deficiencyM Barth, V Serre, L Hubert, et al.
Archives of Disease in Childhood|January 24, 2006
Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assaysL Pasquier, V Laugel, L Lazaro, et al.
Biochimica Et Biophysica Acta|February 14, 2012
A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndromeZ Assouline, M Jambou, M Rio, et al.
Prenatal Diagnosis|August 9, 2001
Prenatal diagnosis of respiratory chain deficiency by direct mutation screeningJ Amiel, N Gigarel, A Benacki, et al.
Human Molecular Genetics|January 1, 1997
Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IBG Lévy, F Levi-Acobas, S Blanchard, et al.
Journal of Inherited Metabolic Disease|March 12, 2009
Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B(12)V Valayannopoulos, L Hubert, J F Benoist, et al.
Clinical Genetics|December 1, 1996
Increased paternal age in CHARGE associationA L Tellier, S Lyonnet, V Cormier-Daire, et al.
Pageof 43