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Clinical Genetics
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November 19, 2011
Isolated cardiomyopathy caused by a DMD nonsense mutation in somatic mosaicism: genetic normalization in skeletal muscle
J Juan-Mateu, C Paradas, M Olivé, et al.
Clinical Genetics
|
August 1, 1986
Segregation analysis of balanced pericentric inversions in pedigree data
S L Sherman, L Iselius, P Gallano, et al.
Medicina Clinica
|
July 1, 1998
[Muscular dystrophy due to a mutation in the gene of alpha-sarcoglycan subunit of dystrophin associated protein complex]
M Urtasun, J J Poza, P Gallano, et al.
European Journal of Human Genetics : EJHG
|
October 22, 1998
Severe limb girdle muscular dystrophy in Spanish gypsies: further evidence for a founder mutation in the gamma-sarcoglycan gene
A Lasa, F Piccolo, C de Diego, et al.
Annals of Neurology
|
February 24, 2001
Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype
I Illa, C Serrano-Munuera, E Gallardo, et al.
Nucleic Acids Research
|
February 25, 1983
Lambda Ig constant region genes are translocated to chromosome 8 in Burkitt's lymphoma with t(8;22)
A de la Chapelle, G Lenoir, J Boué, et al.
Revista De Neurologia
|
April 2, 1999
[Alterations in functional proteins. Calpaine-3 deficiency]
A López de Munain, A Urtasun, J J Poza, et al.
Neurologia (Barcelona, Spain)
|
March 13, 2016
Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases
I Vieitez, P Gallano, L González-Quereda, et al.
Neurologia
|
June 16, 2025
Novel DES mutation presenting with isolated restrictive respiratory failure. Expanding the clinical spectrum
J Alonso-Pérez, O Barrachina-Esteve, L González-Quereda, et al.
Neuromuscular Disorders : NMD
|
October 31, 2006
Dysferlin expression in monocytes: a source of mRNA for mutation analysis
N De Luna, A Freixas, P Gallano, et al.
Page
of 5
Search research articles
Search
Showing results (31-40 of 46) with videos related to
Sort By:
Page
of 5
Clinical Genetics
|
November 19, 2011
Isolated cardiomyopathy caused by a DMD nonsense mutation in somatic mosaicism: genetic normalization in skeletal muscle
J Juan-Mateu, C Paradas, M Olivé, et al.
Clinical Genetics
|
August 1, 1986
Segregation analysis of balanced pericentric inversions in pedigree data
S L Sherman, L Iselius, P Gallano, et al.
Medicina Clinica
|
July 1, 1998
[Muscular dystrophy due to a mutation in the gene of alpha-sarcoglycan subunit of dystrophin associated protein complex]
M Urtasun, J J Poza, P Gallano, et al.
European Journal of Human Genetics : EJHG
|
October 22, 1998
Severe limb girdle muscular dystrophy in Spanish gypsies: further evidence for a founder mutation in the gamma-sarcoglycan gene
A Lasa, F Piccolo, C de Diego, et al.
Annals of Neurology
|
February 24, 2001
Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype
I Illa, C Serrano-Munuera, E Gallardo, et al.
Nucleic Acids Research
|
February 25, 1983
Lambda Ig constant region genes are translocated to chromosome 8 in Burkitt's lymphoma with t(8;22)
A de la Chapelle, G Lenoir, J Boué, et al.
Revista De Neurologia
|
April 2, 1999
[Alterations in functional proteins. Calpaine-3 deficiency]
A López de Munain, A Urtasun, J J Poza, et al.
Neurologia (Barcelona, Spain)
|
March 13, 2016
Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases
I Vieitez, P Gallano, L González-Quereda, et al.
Neurologia
|
June 16, 2025
Novel DES mutation presenting with isolated restrictive respiratory failure. Expanding the clinical spectrum
J Alonso-Pérez, O Barrachina-Esteve, L González-Quereda, et al.
Neuromuscular Disorders : NMD
|
October 31, 2006
Dysferlin expression in monocytes: a source of mRNA for mutation analysis
N De Luna, A Freixas, P Gallano, et al.
Page
of 5