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E Bertini

Showing results (71-80 of 205) with videos related to

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Neurology|August 26, 1998
Giant dystrophin deletion associated with congenital cataract and mild muscular dystrophyM Mirabella, G Galluzzi, G Manfredi, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|November 24, 2011
Laminopathies: many diseases, one gene. Report of the first Italian Meeting Course on LaminopathiesG Lattanzi, S Benedetti, E Bertini, et al.
Journal of Neuromuscular Diseases|November 19, 2016
Long-Term Follow-Up of Two Siblings with a Non-Classic Infantile Variant Form of Pompe DiseaseR Taurisano, A D'Amico, G S Colafati, et al.
Journal of the Neurological Sciences|March 1, 1993
Manifesting heterozygotes in McArdle's disease: clinical, morphological and biochemical studies in a familyG Manfredi, G Silvestri, S Servidei, et al.
Minerva Pediatrica|March 1, 1991
[Neuroendocrine changes in adrenoleukodystrophy (ALD). Their relationship with new therapeutic strategies]M Cappa, A Lancia, P Cambiaso, et al.
American Journal of Medical Genetics|May 8, 2000
X-linked congenital ataxia: a clinical and genetic studyE Bertini, V des Portes, G Zanni, et al.
Neurology|April 1, 1997
The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsyA Battaglia, F Gurrieri, E Bertini, et al.
Journal of Neurology|August 1, 1986
The spectrum of the so-called rigid spine syndrome: nosological considerations and report of three female casesE Bertini, R Marini, G Sabetta, et al.
Human Mutation|September 12, 2000
A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasiaA Giannotti, A Tessa, C Patrono, et al.
Neurology|February 8, 2013
Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD geneG Tasca, F Moro, C Aiello, et al.
Pageof 21

Showing results (71-80 of 205) with videos related to

Sort By:
Pageof 21
Neurology|August 26, 1998
Giant dystrophin deletion associated with congenital cataract and mild muscular dystrophyM Mirabella, G Galluzzi, G Manfredi, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|November 24, 2011
Laminopathies: many diseases, one gene. Report of the first Italian Meeting Course on LaminopathiesG Lattanzi, S Benedetti, E Bertini, et al.
Journal of Neuromuscular Diseases|November 19, 2016
Long-Term Follow-Up of Two Siblings with a Non-Classic Infantile Variant Form of Pompe DiseaseR Taurisano, A D'Amico, G S Colafati, et al.
Journal of the Neurological Sciences|March 1, 1993
Manifesting heterozygotes in McArdle's disease: clinical, morphological and biochemical studies in a familyG Manfredi, G Silvestri, S Servidei, et al.
Minerva Pediatrica|March 1, 1991
[Neuroendocrine changes in adrenoleukodystrophy (ALD). Their relationship with new therapeutic strategies]M Cappa, A Lancia, P Cambiaso, et al.
American Journal of Medical Genetics|May 8, 2000
X-linked congenital ataxia: a clinical and genetic studyE Bertini, V des Portes, G Zanni, et al.
Neurology|April 1, 1997
The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsyA Battaglia, F Gurrieri, E Bertini, et al.
Journal of Neurology|August 1, 1986
The spectrum of the so-called rigid spine syndrome: nosological considerations and report of three female casesE Bertini, R Marini, G Sabetta, et al.
Human Mutation|September 12, 2000
A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasiaA Giannotti, A Tessa, C Patrono, et al.
Neurology|February 8, 2013
Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD geneG Tasca, F Moro, C Aiello, et al.
Pageof 21