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E Bertini

Showing results (101-110 of 205) with videos related to

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Annals of Neurology|October 24, 1997
New familial mitochondrial encephalopathy with macrocephaly, cardiomyopathy, and complex I deficiencyC Dionisi-Vici, W Ruitenbeek, G Fariello, et al.
American Journal of Medical Genetics|April 5, 2000
Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndromeC Patrono, C Rizzo, A Tessa, et al.
Neuromuscular Disorders : NMD|May 17, 2006
POMT2 mutation in a patient with 'MEB-like' phenotypeE Mercuri, A D'Amico, A Tessa, et al.
Neurology|July 1, 1991
Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studiesS Servidei, M Zeviani, G Manfredi, et al.
Kidney International|August 11, 2006
Nephronophthisis type 1 deletion syndrome with neurological symptoms: prevalence and significance of the associationG Caridi, M Dagnino, A Rossi, et al.
Journal of Medical Genetics|February 4, 2005
NPHP1 gene deletion is a rare cause of Joubert syndrome related disordersM Castori, E M Valente, M A Donati, et al.
Lancet (London, England)|December 14, 1991
New clinical phenotype of branched-chain acyl-CoA oxidation defectA Burlina, F Zacchello, C Dionisi-Vici, et al.
Neurogenetics|August 27, 2013
Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3Ginevra Zanni, Chiara Scotton, Chiara Passarelli, et al.
Molecular and Cellular Probes|June 17, 1999
Two novel missense mutations causing adrenoleukodystrophy in Italian patientsC Perusi, M Gomez-Lira, M Mottes, et al.
Neuromuscular Disorders : NMD|December 4, 2001
Hypertrophic cardiomyopathy and mtDNA depletion. Successful treatment with heart transplantationF M Santorelli, M G Gagliardi, C Dionisi-Vici, et al.
Pageof 21

Showing results (101-110 of 205) with videos related to

Sort By:
Pageof 21
Annals of Neurology|October 24, 1997
New familial mitochondrial encephalopathy with macrocephaly, cardiomyopathy, and complex I deficiencyC Dionisi-Vici, W Ruitenbeek, G Fariello, et al.
American Journal of Medical Genetics|April 5, 2000
Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndromeC Patrono, C Rizzo, A Tessa, et al.
Neuromuscular Disorders : NMD|May 17, 2006
POMT2 mutation in a patient with 'MEB-like' phenotypeE Mercuri, A D'Amico, A Tessa, et al.
Neurology|July 1, 1991
Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studiesS Servidei, M Zeviani, G Manfredi, et al.
Kidney International|August 11, 2006
Nephronophthisis type 1 deletion syndrome with neurological symptoms: prevalence and significance of the associationG Caridi, M Dagnino, A Rossi, et al.
Journal of Medical Genetics|February 4, 2005
NPHP1 gene deletion is a rare cause of Joubert syndrome related disordersM Castori, E M Valente, M A Donati, et al.
Lancet (London, England)|December 14, 1991
New clinical phenotype of branched-chain acyl-CoA oxidation defectA Burlina, F Zacchello, C Dionisi-Vici, et al.
Neurogenetics|August 27, 2013
Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3Ginevra Zanni, Chiara Scotton, Chiara Passarelli, et al.
Molecular and Cellular Probes|June 17, 1999
Two novel missense mutations causing adrenoleukodystrophy in Italian patientsC Perusi, M Gomez-Lira, M Mottes, et al.
Neuromuscular Disorders : NMD|December 4, 2001
Hypertrophic cardiomyopathy and mtDNA depletion. Successful treatment with heart transplantationF M Santorelli, M G Gagliardi, C Dionisi-Vici, et al.
Pageof 21