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European Journal of Pediatrics
|
November 24, 2004
A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Epsilon1alpha gene
Már Tulinius, Niklas Darin, Lars-Martin Wiklund, et al.
Archives of Neurology
|
September 12, 2007
Two novel mitochondrial DNA mutations in muscle tissue of a patient with limb-girdle myopathy
Ann Meulemans, Boel De Paepe, Jan De Bleecker, et al.
Electrophoresis
|
October 29, 2009
Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA
Joél Smet, Sara Seneca, Boel De Paepe, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
December 13, 2006
A new family with the mitochondrial tRNAGLU gene mutation m.14709T>C presenting with hydrops fetalis
Ann Meulemans, Sara Seneca, Joel Smet, et al.
European Journal of Human Genetics : EJHG
|
October 3, 2002
Preimplantation genetic diagnosis for Huntington's disease with exclusion testing
Karen Sermon, Martine De Rijcke, Willy Lissens, et al.
Muscle & Nerve
|
July 19, 2012
Proteomic analysis in giant axonal neuropathy: new insights into disease mechanisms
Silke Mussche, Boel De Paepe, Joél Smet, et al.
Clinical Endocrinology
|
September 18, 2010
A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia
Fadil M Hannan, M A Nesbit, Paul T Christie, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
June 13, 2013
Elaborating the phenotypic spectrum associated with mutations in ARFGEF2: case study and literature review
Ibrahim Tanyalçin, Helene Verhelst, Dicky J J Halley, et al.
European Journal of Human Genetics : EJHG
|
March 27, 2014
Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?
Sara Seneca, Kim Vancampenhout, Rudy Van Coster, et al.
Pediatric Research
|
June 26, 2012
Fluorescence imaging of mitochondria in cultured skin fibroblasts: a useful method for the detection of oxidative phosphorylation defects
Boel De Paepe, Joél Smet, Arnaud Vanlander, et al.
Page
of 7
Search research articles
Search
Showing results (41-50 of 68) with videos related to
Sort By:
Page
of 7
European Journal of Pediatrics
|
November 24, 2004
A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Epsilon1alpha gene
Már Tulinius, Niklas Darin, Lars-Martin Wiklund, et al.
Archives of Neurology
|
September 12, 2007
Two novel mitochondrial DNA mutations in muscle tissue of a patient with limb-girdle myopathy
Ann Meulemans, Boel De Paepe, Jan De Bleecker, et al.
Electrophoresis
|
October 29, 2009
Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA
Joél Smet, Sara Seneca, Boel De Paepe, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
December 13, 2006
A new family with the mitochondrial tRNAGLU gene mutation m.14709T>C presenting with hydrops fetalis
Ann Meulemans, Sara Seneca, Joel Smet, et al.
European Journal of Human Genetics : EJHG
|
October 3, 2002
Preimplantation genetic diagnosis for Huntington's disease with exclusion testing
Karen Sermon, Martine De Rijcke, Willy Lissens, et al.
Muscle & Nerve
|
July 19, 2012
Proteomic analysis in giant axonal neuropathy: new insights into disease mechanisms
Silke Mussche, Boel De Paepe, Joél Smet, et al.
Clinical Endocrinology
|
September 18, 2010
A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia
Fadil M Hannan, M A Nesbit, Paul T Christie, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
June 13, 2013
Elaborating the phenotypic spectrum associated with mutations in ARFGEF2: case study and literature review
Ibrahim Tanyalçin, Helene Verhelst, Dicky J J Halley, et al.
European Journal of Human Genetics : EJHG
|
March 27, 2014
Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?
Sara Seneca, Kim Vancampenhout, Rudy Van Coster, et al.
Pediatric Research
|
June 26, 2012
Fluorescence imaging of mitochondria in cultured skin fibroblasts: a useful method for the detection of oxidative phosphorylation defects
Boel De Paepe, Joél Smet, Arnaud Vanlander, et al.
Page
of 7