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A Munnich

Showing results (311-320 of 426) with videos related to

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American Journal of Medical Genetics. Part A|December 12, 2002
Mild phenotype in a 15-year-old boy with Pallister-Killian syndromeD Genevieve, V Cormier-Daire, D Sanlaville, et al.
American Journal of Medical Genetics|October 12, 2002
Clinical and genetic heterogeneity of Seckel syndromeL Faivre, M Le Merrer, S Lyonnet, et al.
American Journal of Medical Genetics|December 5, 2000
Clinical variability and genetic homogeneity of the camptodactyly-arthropathy-coxa vara-pericarditis syndromeL Faivre, A M Prieur, M Le Merrer, et al.
Molecular Genetics and Metabolism|November 3, 2005
Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvementA Slama, I Giurgea, D Debrey, et al.
Human Genetics|August 15, 2000
Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decayZ Urbán, V V Michels, S N Thibodeau, et al.
Human Molecular Genetics|November 16, 2001
Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genesS Aradhya, T Bardaro, P Galgóczy, et al.
Journal of Inherited Metabolic Disease|January 1, 1996
Metabolic intermediates in lactic acidosis: compounds, samples and interpretationF Poggi-Travert, D Martin, T Billette de Villemeur, et al.
Clinical Genetics|September 29, 2009
Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression burstsF Molinari, A Kaminska, G Fiermonte, et al.
Journal of Medical Genetics|July 5, 2005
Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome)P J Ferguson, S Chen, M K Tayeh, et al.
American Journal of Medical Genetics|January 16, 1995
Prenatal diagnosis of the urea cycle diseases: a survey of the European casesP Kamoun, A H Fensom, Y S Shin, et al.
Pageof 43

Showing results (311-320 of 426) with videos related to

Sort By:
Pageof 43
American Journal of Medical Genetics. Part A|December 12, 2002
Mild phenotype in a 15-year-old boy with Pallister-Killian syndromeD Genevieve, V Cormier-Daire, D Sanlaville, et al.
American Journal of Medical Genetics|October 12, 2002
Clinical and genetic heterogeneity of Seckel syndromeL Faivre, M Le Merrer, S Lyonnet, et al.
American Journal of Medical Genetics|December 5, 2000
Clinical variability and genetic homogeneity of the camptodactyly-arthropathy-coxa vara-pericarditis syndromeL Faivre, A M Prieur, M Le Merrer, et al.
Molecular Genetics and Metabolism|November 3, 2005
Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvementA Slama, I Giurgea, D Debrey, et al.
Human Genetics|August 15, 2000
Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decayZ Urbán, V V Michels, S N Thibodeau, et al.
Human Molecular Genetics|November 16, 2001
Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genesS Aradhya, T Bardaro, P Galgóczy, et al.
Journal of Inherited Metabolic Disease|January 1, 1996
Metabolic intermediates in lactic acidosis: compounds, samples and interpretationF Poggi-Travert, D Martin, T Billette de Villemeur, et al.
Clinical Genetics|September 29, 2009
Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression burstsF Molinari, A Kaminska, G Fiermonte, et al.
Journal of Medical Genetics|July 5, 2005
Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome)P J Ferguson, S Chen, M K Tayeh, et al.
American Journal of Medical Genetics|January 16, 1995
Prenatal diagnosis of the urea cycle diseases: a survey of the European casesP Kamoun, A H Fensom, Y S Shin, et al.
Pageof 43