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Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|
March 18, 2014
[Multicentric study of medical care and practices in spinal muscular atrophy type 1 over two 10-year periods]
C Barnérias, S Quijano, M Mayer, et al.
Neurology
|
December 17, 2008
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion
C Cardoso, A Boys, E Parrini, et al.
Journal of Medical Genetics
|
July 7, 2009
Novel FOXG1 mutations associated with the congenital variant of Rett syndrome
M A Mencarelli, A Spanhol-Rosseto, R Artuso, et al.
Journal of Human Genetics
|
December 20, 2019
Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease
J Mortreux, J Bacquet, A Boyer, et al.
Mitochondrion
|
December 15, 2007
Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy
S Bannwarth, V Procaccio, C Rouzier, et al.
Journal of Medical Genetics
|
January 3, 2001
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases
P de Lonlay, N Seta, S Barrot, et al.
Neurology
|
December 10, 2008
The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa
P Richard, K Gaudon, H Haddad, et al.
Journal of Medical Genetics
|
October 26, 2010
A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency
A S Lebre, M Rio, L Faivre d'Arcier, et al.
Neuromuscular Disorders : NMD
|
October 29, 2000
Hereditary motor and sensory neuropathy--Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries
D Chandler, D Angelicheva, L Heather, et al.
Neurogenetics
|
March 7, 2008
Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?
M Y Frédéric, F Clot, L Cif, et al.
Page
of 18
Search research articles
Search
Showing results (161-170 of 173) with videos related to
Sort By:
Page
of 18
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|
March 18, 2014
[Multicentric study of medical care and practices in spinal muscular atrophy type 1 over two 10-year periods]
C Barnérias, S Quijano, M Mayer, et al.
Neurology
|
December 17, 2008
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion
C Cardoso, A Boys, E Parrini, et al.
Journal of Medical Genetics
|
July 7, 2009
Novel FOXG1 mutations associated with the congenital variant of Rett syndrome
M A Mencarelli, A Spanhol-Rosseto, R Artuso, et al.
Journal of Human Genetics
|
December 20, 2019
Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease
J Mortreux, J Bacquet, A Boyer, et al.
Mitochondrion
|
December 15, 2007
Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy
S Bannwarth, V Procaccio, C Rouzier, et al.
Journal of Medical Genetics
|
January 3, 2001
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases
P de Lonlay, N Seta, S Barrot, et al.
Neurology
|
December 10, 2008
The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa
P Richard, K Gaudon, H Haddad, et al.
Journal of Medical Genetics
|
October 26, 2010
A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency
A S Lebre, M Rio, L Faivre d'Arcier, et al.
Neuromuscular Disorders : NMD
|
October 29, 2000
Hereditary motor and sensory neuropathy--Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries
D Chandler, D Angelicheva, L Heather, et al.
Neurogenetics
|
March 7, 2008
Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?
M Y Frédéric, F Clot, L Cif, et al.
Page
of 18