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Neuromuscular Disorders : NMD
|
November 1, 1995
Duplication of dystrophin gene and dissimilar clinical phenotype in the same family
A Toscano, L Vitiello, G P Comi, et al.
Genomics
|
August 1, 1996
Evidence for genetic heterogeneity in the carbohydrate-deficient glycoprotein syndrome type I (CDG1)
G Matthijs, E Legius, E Schollen, et al.
The Journal of Clinical Endocrinology and Metabolism
|
July 1, 1997
Negative/low expression of the Met/hepatocyte growth factor receptor identifies papillary thyroid carcinomas with high risk of distant metastases
A Belfiore, P Gangemi, A Costantino, et al.
Journal of Medical Genetics
|
June 1, 1991
Sanfilippo syndrome type D in two adolescent sisters
L Siciliano, A Fiumara, L Pavone, et al.
Journal of Inherited Metabolic Disease
|
July 15, 2000
Pathobiochemical implications of hyperdopaminuria in patients with aromatic L-amino acid decarboxylase deficiency
N G Abeling, C Bräutigam, G F Hoffmann, et al.
Journal of Inherited Metabolic Disease
|
July 15, 2000
Carbohydrate-deficient glycoprotein syndromes: the Italian experience
M Di Rocco, R Barone, A Adami, et al.
European Review for Medical and Pharmacological Sciences
|
July 8, 2020
Primary headache in childhood associated with psychiatric disturbances: an update
C Romano, S Y Cho, S Marino, et al.
Journal of Neurology
|
October 31, 2014
A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation
Rita Barone, M Carrozzi, R Parini, et al.
Journal of Inherited Metabolic Disease
|
July 1, 1997
Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins
J Jaeken, J Artigas, R Barone, et al.
Clinical Genetics
|
April 27, 2011
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene
L Ferri, C Guido, G la Marca, et al.
Page
of 8
Search research articles
Search
Showing results (61-70 of 73) with videos related to
Sort By:
Page
of 8
Neuromuscular Disorders : NMD
|
November 1, 1995
Duplication of dystrophin gene and dissimilar clinical phenotype in the same family
A Toscano, L Vitiello, G P Comi, et al.
Genomics
|
August 1, 1996
Evidence for genetic heterogeneity in the carbohydrate-deficient glycoprotein syndrome type I (CDG1)
G Matthijs, E Legius, E Schollen, et al.
The Journal of Clinical Endocrinology and Metabolism
|
July 1, 1997
Negative/low expression of the Met/hepatocyte growth factor receptor identifies papillary thyroid carcinomas with high risk of distant metastases
A Belfiore, P Gangemi, A Costantino, et al.
Journal of Medical Genetics
|
June 1, 1991
Sanfilippo syndrome type D in two adolescent sisters
L Siciliano, A Fiumara, L Pavone, et al.
Journal of Inherited Metabolic Disease
|
July 15, 2000
Pathobiochemical implications of hyperdopaminuria in patients with aromatic L-amino acid decarboxylase deficiency
N G Abeling, C Bräutigam, G F Hoffmann, et al.
Journal of Inherited Metabolic Disease
|
July 15, 2000
Carbohydrate-deficient glycoprotein syndromes: the Italian experience
M Di Rocco, R Barone, A Adami, et al.
European Review for Medical and Pharmacological Sciences
|
July 8, 2020
Primary headache in childhood associated with psychiatric disturbances: an update
C Romano, S Y Cho, S Marino, et al.
Journal of Neurology
|
October 31, 2014
A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation
Rita Barone, M Carrozzi, R Parini, et al.
Journal of Inherited Metabolic Disease
|
July 1, 1997
Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins
J Jaeken, J Artigas, R Barone, et al.
Clinical Genetics
|
April 27, 2011
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene
L Ferri, C Guido, G la Marca, et al.
Page
of 8