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Journal of Medical Genetics
|
September 11, 1998
Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression
R Tupler, L Barbierato, M Memmi, et al.
Journal of Medical Genetics
|
August 16, 2003
Multiple exon skipping and RNA circularisation contribute to the severe phenotypic expression of exon 5 dystrophin deletion
F Gualandi, C Trabanelli, P Rimessi, et al.
Journal of the Neurological Sciences
|
February 1, 1996
X-linked bulbar and spinal muscular atrophy, or Kennedy disease: clinical, neurophysiological, neuropathological, neuropsychological and molecular study of a large family
D Guidetti, E Vescovini, L Motti, et al.
The Journal of Headache and Pain
|
September 1, 2018
New CACNA1A deletions are associated to migraine phenotypes
G S Grieco, S Gagliardi, I Ricca, et al.
Cardiologia (Rome, Italy)
|
December 25, 2002
Dilated cardiomyopathy and muscular dystrophies: which lesson can be learned?
F Muntoni, A Ferlini, C Sewry, et al.
Human Mutation
|
January 1, 1994
A new mutation (TTR Ala-47) in the transthyretin gene associated with hereditary amyloidosis
A Ferlini, M C Patrosso, M Repetto, et al.
Neuromuscular Disorders : NMD
|
April 2, 2013
A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation
M Neri, R Selvatici, C Scotton, et al.
Ophthalmic Paediatrics and Genetics
|
March 1, 1993
Transthyretin-related TTR hereditary amyloidosis of the vitreous body. Clinical and molecular characterization in two Italian families
F Salvi, G Salvi, R Volpe, et al.
Biochemical and Biophysical Research Communications
|
February 15, 1996
Decreased affinity of apolipoprotein AII to high-density lipoprotein in patients with transthyretin-related amyloidosis (Met30, Gln89, Pro36, and Thr34)
M Nakamura, Y Tanaka, Y Ando, et al.
Human Reproduction (Oxford, England)
|
April 9, 2004
Prenatal diagnosis of a complete mole coexisting with a dichorionic twin pregnancy: case report
L Bovicelli, T Ghi, G Pilu, et al.
Page
of 9
Search research articles
Search
Showing results (41-50 of 88) with videos related to
Sort By:
Page
of 9
Journal of Medical Genetics
|
September 11, 1998
Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression
R Tupler, L Barbierato, M Memmi, et al.
Journal of Medical Genetics
|
August 16, 2003
Multiple exon skipping and RNA circularisation contribute to the severe phenotypic expression of exon 5 dystrophin deletion
F Gualandi, C Trabanelli, P Rimessi, et al.
Journal of the Neurological Sciences
|
February 1, 1996
X-linked bulbar and spinal muscular atrophy, or Kennedy disease: clinical, neurophysiological, neuropathological, neuropsychological and molecular study of a large family
D Guidetti, E Vescovini, L Motti, et al.
The Journal of Headache and Pain
|
September 1, 2018
New CACNA1A deletions are associated to migraine phenotypes
G S Grieco, S Gagliardi, I Ricca, et al.
Cardiologia (Rome, Italy)
|
December 25, 2002
Dilated cardiomyopathy and muscular dystrophies: which lesson can be learned?
F Muntoni, A Ferlini, C Sewry, et al.
Human Mutation
|
January 1, 1994
A new mutation (TTR Ala-47) in the transthyretin gene associated with hereditary amyloidosis
A Ferlini, M C Patrosso, M Repetto, et al.
Neuromuscular Disorders : NMD
|
April 2, 2013
A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation
M Neri, R Selvatici, C Scotton, et al.
Ophthalmic Paediatrics and Genetics
|
March 1, 1993
Transthyretin-related TTR hereditary amyloidosis of the vitreous body. Clinical and molecular characterization in two Italian families
F Salvi, G Salvi, R Volpe, et al.
Biochemical and Biophysical Research Communications
|
February 15, 1996
Decreased affinity of apolipoprotein AII to high-density lipoprotein in patients with transthyretin-related amyloidosis (Met30, Gln89, Pro36, and Thr34)
M Nakamura, Y Tanaka, Y Ando, et al.
Human Reproduction (Oxford, England)
|
April 9, 2004
Prenatal diagnosis of a complete mole coexisting with a dichorionic twin pregnancy: case report
L Bovicelli, T Ghi, G Pilu, et al.
Page
of 9