Search research articles
Contact Us
Filters
Showing results (231-240 of 543) with videos related to
Page
of 55
Sort By:
Neuromuscular Disorders : NMD
|
July 19, 2000
Cerebrotendinous xanthomatosis. Controversies about nerve and muscle: observations in ten patients
A Verrips, B G van Engelen, H ter Laak, et al.
Journal of Inherited Metabolic Disease
|
April 26, 2007
Transferrin hypoglycosylation in hereditary fructose intolerance: using the clues and avoiding the pitfalls
M Adamowicz, R Płoski, D Rokicki, et al.
The Biochemical Journal
|
July 1, 1993
Deficiency of Na+/K(+)-ATPase and sarcoplasmic reticulum Ca(2+)-ATPase in skeletal muscle and cultured muscle cells of myotonic dystrophy patients
A A Benders, J A Timmermans, A Oosterhof, et al.
Clinical Science (London, England : 1979)
|
May 1, 2002
Muscle function during repetitive moderate-intensity muscle contractions in myoadenylate deaminase-deficient Dutch subjects
C J De Ruiter, A M May, B G M van Engelen, et al.
JIMD Reports
|
February 23, 2013
The paradox of hyperdopaminuria in aromatic L-amino Acid deficiency explained
Tessa Wassenberg, Leo A H Monnens, Ben P B H Geurtz, et al.
Journal of Child Neurology
|
December 11, 1999
Increased cerebrospinal fluid glycine: a biochemical marker for a leukoencephalopathy with vanishing white matter
M S van der Knaap, R A Wevers, S Kure, et al.
Clinical Dysmorphology
|
February 3, 2011
Cutis laxa and fatal pulmonary hypertension: a newly recognized syndrome?
Nicola Brunetti-Pierri, Pasquale Piccolo, Eva Morava, et al.
The British Journal of Ophthalmology
|
November 21, 2008
Ophthalmological abnormalities in children with congenital disorders of glycosylation type I
E Morava, H N Wosik, J Sykut-Cegielska, et al.
Annals of Neurology
|
October 20, 1998
Dopa-responsive dystonia: a clinical and molecular genetic study
O Bandmann, E M Valente, P Holmans, et al.
The Journal of Investigative Dermatology
|
January 1, 1995
Up-regulation of keratin 17 expression in human HaCaT keratinocytes by interferon-gamma
B Bonnekoh, C Huerkamp, A Wevers, et al.
Page
of 55
Search research articles
Search
Showing results (231-240 of 543) with videos related to
Sort By:
Page
of 55
Neuromuscular Disorders : NMD
|
July 19, 2000
Cerebrotendinous xanthomatosis. Controversies about nerve and muscle: observations in ten patients
A Verrips, B G van Engelen, H ter Laak, et al.
Journal of Inherited Metabolic Disease
|
April 26, 2007
Transferrin hypoglycosylation in hereditary fructose intolerance: using the clues and avoiding the pitfalls
M Adamowicz, R Płoski, D Rokicki, et al.
The Biochemical Journal
|
July 1, 1993
Deficiency of Na+/K(+)-ATPase and sarcoplasmic reticulum Ca(2+)-ATPase in skeletal muscle and cultured muscle cells of myotonic dystrophy patients
A A Benders, J A Timmermans, A Oosterhof, et al.
Clinical Science (London, England : 1979)
|
May 1, 2002
Muscle function during repetitive moderate-intensity muscle contractions in myoadenylate deaminase-deficient Dutch subjects
C J De Ruiter, A M May, B G M van Engelen, et al.
JIMD Reports
|
February 23, 2013
The paradox of hyperdopaminuria in aromatic L-amino Acid deficiency explained
Tessa Wassenberg, Leo A H Monnens, Ben P B H Geurtz, et al.
Journal of Child Neurology
|
December 11, 1999
Increased cerebrospinal fluid glycine: a biochemical marker for a leukoencephalopathy with vanishing white matter
M S van der Knaap, R A Wevers, S Kure, et al.
Clinical Dysmorphology
|
February 3, 2011
Cutis laxa and fatal pulmonary hypertension: a newly recognized syndrome?
Nicola Brunetti-Pierri, Pasquale Piccolo, Eva Morava, et al.
The British Journal of Ophthalmology
|
November 21, 2008
Ophthalmological abnormalities in children with congenital disorders of glycosylation type I
E Morava, H N Wosik, J Sykut-Cegielska, et al.
Annals of Neurology
|
October 20, 1998
Dopa-responsive dystonia: a clinical and molecular genetic study
O Bandmann, E M Valente, P Holmans, et al.
The Journal of Investigative Dermatology
|
January 1, 1995
Up-regulation of keratin 17 expression in human HaCaT keratinocytes by interferon-gamma
B Bonnekoh, C Huerkamp, A Wevers, et al.
Page
of 55