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American Journal of Medical Genetics
|
October 27, 1998
Megalencephaly, mega corpus callosum, and complete lack of motor development: a previously undescribed syndrome
G Göhlich-Ratmann, M Baethmann, P Lorenz, et al.
Deutsche Medizinische Wochenschrift (1946)
|
May 29, 1981
[Myoglobinuric renal failure in hyperosmolar diabetic coma (author's transl)]
K W Rumpf, H Kaiser, H J Gröne, et al.
Journal of the Neurological Sciences
|
January 1, 1997
Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in four siblings
E Hund, A Grau, W Fogel, et al.
Neurology
|
October 4, 2022
Morphologic and Molecular Patterns of Polymyositis With Mitochondrial Pathology and Inclusion Body Myositis
Felix Kleefeld, Akinori Uruha, Anne Schänzer, et al.
Acta Neuropathologica
|
June 30, 2005
Delayed or late-onset type II glycogenosis with globular inclusions
Mehar C Sharma, Christoph Schultze, Arpad von Moers, et al.
European Journal of Pediatrics
|
August 20, 2003
Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation
Olga Grafakou, Konrad Oexle, Lambert van den Heuvel, et al.
Brain : a Journal of Neurology
|
December 7, 2007
McLeod myopathy revisited: more neurogenic and less benign
Ekkehard Hewer, Adrian Danek, Benedikt G Schoser, et al.
Neuromuscular Disorders : NMD
|
July 16, 2002
A G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population
M Gross, E Rötzer, P Kölle, et al.
Neuromuscular Disorders : NMD
|
September 1, 2004
Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin
Carina Wallgren-Pettersson, Katarina Pelin, Kristen J Nowak, et al.
Neurology
|
June 20, 1998
SPECT study of a German CADASIL family: a phenotype with migraine and progressive dementia only
J K Mellies, T Bäumer, J A Müller, et al.
Page
of 49
Search research articles
Search
Showing results (441-450 of 483) with videos related to
Sort By:
Page
of 49
American Journal of Medical Genetics
|
October 27, 1998
Megalencephaly, mega corpus callosum, and complete lack of motor development: a previously undescribed syndrome
G Göhlich-Ratmann, M Baethmann, P Lorenz, et al.
Deutsche Medizinische Wochenschrift (1946)
|
May 29, 1981
[Myoglobinuric renal failure in hyperosmolar diabetic coma (author's transl)]
K W Rumpf, H Kaiser, H J Gröne, et al.
Journal of the Neurological Sciences
|
January 1, 1997
Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in four siblings
E Hund, A Grau, W Fogel, et al.
Neurology
|
October 4, 2022
Morphologic and Molecular Patterns of Polymyositis With Mitochondrial Pathology and Inclusion Body Myositis
Felix Kleefeld, Akinori Uruha, Anne Schänzer, et al.
Acta Neuropathologica
|
June 30, 2005
Delayed or late-onset type II glycogenosis with globular inclusions
Mehar C Sharma, Christoph Schultze, Arpad von Moers, et al.
European Journal of Pediatrics
|
August 20, 2003
Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation
Olga Grafakou, Konrad Oexle, Lambert van den Heuvel, et al.
Brain : a Journal of Neurology
|
December 7, 2007
McLeod myopathy revisited: more neurogenic and less benign
Ekkehard Hewer, Adrian Danek, Benedikt G Schoser, et al.
Neuromuscular Disorders : NMD
|
July 16, 2002
A G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population
M Gross, E Rötzer, P Kölle, et al.
Neuromuscular Disorders : NMD
|
September 1, 2004
Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin
Carina Wallgren-Pettersson, Katarina Pelin, Kristen J Nowak, et al.
Neurology
|
June 20, 1998
SPECT study of a German CADASIL family: a phenotype with migraine and progressive dementia only
J K Mellies, T Bäumer, J A Müller, et al.
Page
of 49