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European Journal of Human Genetics : EJHG
|
April 12, 2007
Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders
Anna H Hakonen, Guido Davidzon, Renato Salemi, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
February 21, 2012
Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy
Emmanuel Scalais, Baudouin Francois, Patrick Schlesser, et al.
Archives of Neurology
|
February 10, 2010
A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes
Bulent Kurt, Jaak Jaeken, Johan Van Hove, et al.
BMC Clinical Pathology
|
June 9, 2009
Mitochondrial mosaics in the liver of 3 infants with mtDNA defects
Frank Roels, Patrick Verloo, François Eyskens, et al.
Human Mutation
|
May 10, 2016
Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern
Nathalie Fieremans, Hilde Van Esch, Maureen Holvoet, et al.
American Journal of Human Genetics
|
August 5, 2005
Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin
Anna H Hakonen, Silja Heiskanen, Vesa Juvonen, et al.
Tijdschrift Voor Gerontologie En Geriatrie
|
September 22, 2018
[The behavioral and psychological symptoms of dementia in down syndrome (BPSD-DS) scale: comprehensive assessment of psychopathology in down syndrome]
Alain D Dekker, Yannick Vermeiren, Gonny Beugelsdijk, et al.
Journal of Inherited Metabolic Disease
|
June 20, 2020
Disturbed brain ether lipid metabolism and histology in Sjögren-Larsson syndrome
Pippa Staps, William B Rizzo, Frédéric M Vaz, et al.
Journal of Alzheimer'S Disease : JAD
|
April 26, 2018
The Behavioral and Psychological Symptoms of Dementia in Down Syndrome (BPSD-DS) Scale: Comprehensive Assessment of Psychopathology in Down Syndrome
Alain D Dekker, Silvia Sacco, Angelo Carfi, et al.
Brain : a Journal of Neurology
|
December 20, 2012
What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?
Vivienne C M Neeve, David C Samuels, Laurence A Bindoff, et al.
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Search research articles
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Showing results (11-20 of 21) with videos related to
Sort By:
Page
of 3
European Journal of Human Genetics : EJHG
|
April 12, 2007
Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders
Anna H Hakonen, Guido Davidzon, Renato Salemi, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
February 21, 2012
Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy
Emmanuel Scalais, Baudouin Francois, Patrick Schlesser, et al.
Archives of Neurology
|
February 10, 2010
A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes
Bulent Kurt, Jaak Jaeken, Johan Van Hove, et al.
BMC Clinical Pathology
|
June 9, 2009
Mitochondrial mosaics in the liver of 3 infants with mtDNA defects
Frank Roels, Patrick Verloo, François Eyskens, et al.
Human Mutation
|
May 10, 2016
Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern
Nathalie Fieremans, Hilde Van Esch, Maureen Holvoet, et al.
American Journal of Human Genetics
|
August 5, 2005
Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin
Anna H Hakonen, Silja Heiskanen, Vesa Juvonen, et al.
Tijdschrift Voor Gerontologie En Geriatrie
|
September 22, 2018
[The behavioral and psychological symptoms of dementia in down syndrome (BPSD-DS) scale: comprehensive assessment of psychopathology in down syndrome]
Alain D Dekker, Yannick Vermeiren, Gonny Beugelsdijk, et al.
Journal of Inherited Metabolic Disease
|
June 20, 2020
Disturbed brain ether lipid metabolism and histology in Sjögren-Larsson syndrome
Pippa Staps, William B Rizzo, Frédéric M Vaz, et al.
Journal of Alzheimer'S Disease : JAD
|
April 26, 2018
The Behavioral and Psychological Symptoms of Dementia in Down Syndrome (BPSD-DS) Scale: Comprehensive Assessment of Psychopathology in Down Syndrome
Alain D Dekker, Silvia Sacco, Angelo Carfi, et al.
Brain : a Journal of Neurology
|
December 20, 2012
What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?
Vivienne C M Neeve, David C Samuels, Laurence A Bindoff, et al.
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of 3