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Human Genetics
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January 29, 2010
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica
María José Escámez, N Cuadrado-Corrales, M García, et al.
Human Genetics
|
January 29, 2010
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica
Marta García, M J Escamez, N Cuadrado-Corrales, et al.
Neurologia (Barcelona, Spain)
|
March 7, 2008
[Usefulness of the 14-3-3 test for the diagnosis of sCJD evaluated by a Spanish reference center]
N Cuadrado-Corrales, A Jiménez-Huete, C Albo, et al.
The British Journal of Dermatology
|
July 5, 2012
Recessive dystrophic epidermolysis bullosa: the origin of the c.6527insC mutation in the Spanish population
C Sanchez-Jimeno, N Cuadrado-Corrales, E Aller, et al.
Dermatology (Basel, Switzerland)
|
August 19, 2011
A recurrent nonsense mutation occurring as a de novo event in a patient with recessive dystrophic epidermolysis bullosa
N Cuadrado-Corrales, C Sánchez-Jimeno, M García, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
May 16, 2000
Fatal familial insomnia: clinical, neuropathological, and genetic description of a Spanish family
C Tabernero, J M Polo, M D Sevillano, et al.
Dermatology (Basel, Switzerland)
|
June 5, 2010
X-linked ichthyosis along with recessive dystrophic epidermolysis bullosa in the same patient
A Hernández-Martín, N Cuadrado-Corrales, S Ciria-Abad, et al.
Clinical Genetics
|
August 14, 2012
Hereditary hyperferritinemia cataract syndrome in four patients with mutations in the IRE of the FTL gene
J Muñoz-Muñoz, N Cuadrado-Grande, M-I Moreno-Carralero, et al.
European Journal of Neurology
|
January 26, 2007
CSF analysis in patients with sporadic CJD and other transmissible spongiform encephalopathies
A Green, P Sanchez-Juan, A Ladogana, et al.
Neurology
|
August 23, 2006
CSF tests in the differential diagnosis of Creutzfeldt-Jakob disease
P Sanchez-Juan, A Green, A Ladogana, et al.
Page
of 3
Search research articles
Search
Showing results (11-20 of 24) with videos related to
Sort By:
Page
of 3
Human Genetics
|
January 29, 2010
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica
María José Escámez, N Cuadrado-Corrales, M García, et al.
Human Genetics
|
January 29, 2010
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica
Marta García, M J Escamez, N Cuadrado-Corrales, et al.
Neurologia (Barcelona, Spain)
|
March 7, 2008
[Usefulness of the 14-3-3 test for the diagnosis of sCJD evaluated by a Spanish reference center]
N Cuadrado-Corrales, A Jiménez-Huete, C Albo, et al.
The British Journal of Dermatology
|
July 5, 2012
Recessive dystrophic epidermolysis bullosa: the origin of the c.6527insC mutation in the Spanish population
C Sanchez-Jimeno, N Cuadrado-Corrales, E Aller, et al.
Dermatology (Basel, Switzerland)
|
August 19, 2011
A recurrent nonsense mutation occurring as a de novo event in a patient with recessive dystrophic epidermolysis bullosa
N Cuadrado-Corrales, C Sánchez-Jimeno, M García, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
May 16, 2000
Fatal familial insomnia: clinical, neuropathological, and genetic description of a Spanish family
C Tabernero, J M Polo, M D Sevillano, et al.
Dermatology (Basel, Switzerland)
|
June 5, 2010
X-linked ichthyosis along with recessive dystrophic epidermolysis bullosa in the same patient
A Hernández-Martín, N Cuadrado-Corrales, S Ciria-Abad, et al.
Clinical Genetics
|
August 14, 2012
Hereditary hyperferritinemia cataract syndrome in four patients with mutations in the IRE of the FTL gene
J Muñoz-Muñoz, N Cuadrado-Grande, M-I Moreno-Carralero, et al.
European Journal of Neurology
|
January 26, 2007
CSF analysis in patients with sporadic CJD and other transmissible spongiform encephalopathies
A Green, P Sanchez-Juan, A Ladogana, et al.
Neurology
|
August 23, 2006
CSF tests in the differential diagnosis of Creutzfeldt-Jakob disease
P Sanchez-Juan, A Green, A Ladogana, et al.
Page
of 3