Detalhe da pesquisa
1.
Bi-allelic mutations in EGR2 cause autosomal recessive demyelinating neuropathy by disrupting the EGR2-NAB complex.
Eur J Neurol
; 27(12): 2662-2667, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-32896048
2.
Clinical spectrum of BICD2 mutations.
Eur J Neurol
; 27(7): 1327-1335, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32056343
3.
On the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation.
Clin Genet
; 93(4): 731-740, 2018 04.
Artigo
Inglês
| MEDLINE | ID: mdl-28542792
4.
The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease.
Eur J Neurol
; 22(12): 1548-55, 2015 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-26204789
5.
Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth.
Clin Genet
; 83(6): 565-70, 2013 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-22978647
6.
Twin-sisters with PLA2G6-associated neurodegeneration due to paternal isodisomy of the chromosome 22 following in vitro fertilization.
Clin Genet
; 92(1): 117-118, 2017 07.
Artigo
Inglês
| MEDLINE | ID: mdl-28150298
7.
Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients.
Clin Genet
; 81(5): 491-4, 2012 May.
Artigo
Inglês
| MEDLINE | ID: mdl-21395566
8.
Phenotype and natural history of inherited neuropathies caused by HSJ1 c.352+1G>A mutation.
J Neurol Neurosurg Psychiatry
; 87(11): 1265-1268, 2016 11.
Artigo
Inglês
| MEDLINE | ID: mdl-27083531
9.
Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuria.
Clin Genet
; 78(6): 554-9, 2010 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-20584029
10.
Mutations in the urocanase gene UROC1 are associated with urocanic aciduria.
J Med Genet
; 46(6): 407-11, 2009 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-19304569
11.
A century with the Magill forceps. / Un siglo con las pinzas de Magill.
Rev Esp Anestesiol Reanim (Engl Ed)
; 67(6): 357-358, 2020.
Artigo
Inglês, Espanhol
| MEDLINE | ID: mdl-32253026
12.
Identification of three novel mutations in the MYO7A gene.
Hum Mutat
; 14(2): 181, 1999 Aug 19.
Artigo
Inglês
| MEDLINE | ID: mdl-10447383
13.
Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2).
Ophthalmic Genet
; 21(2): 123-8, 2000 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-10916187
14.
[Characterization of major ambulatory surgery in a basic general hospital]. / Caracterización de la cirugia mayor ambulatoria en un hospital general básico.
Rev Esp Salud Publica
; 73(1): 71-80, 1999.
Artigo
Espanhol
| MEDLINE | ID: mdl-10224882
15.
[The Medical Telegraph (1847-1850) and the introduction of anesthesiology in Spain]. / El Telégrafo Médico (1847-1850) y la introducción de la anestesiología en España.
Rev Esp Anestesiol Reanim
; 36(3): 161-6, 1989.
Artigo
Espanhol
| MEDLINE | ID: mdl-2669042
16.
[Analysis of the anesthesiology doctoral theses in Cadiz during the Six-Year Revolution]. / Análisis de las tesis doctorales anestésicas gaditanas del Sexenio Revolucionario.
Rev Esp Anestesiol Reanim
; 36(5): 276-81, 1989.
Artigo
Espanhol
| MEDLINE | ID: mdl-2687970
17.
[Postoperative complications in a case of iatrogenic hypothyroidism induced by diet drugs]. / Complicaciones postoperatorias de un hipotiroidismo iatrógeno no detectado inducido por fármacos adelgazantes.
Rev Esp Anestesiol Reanim
; 45(8): 349-52, 1998 Oct.
Artigo
Espanhol
| MEDLINE | ID: mdl-9847646
18.
[Controversies surrounding pain and inhalation anesthesia in nineteenth century Spain]. / Controversias en torno al dolor y la anestesia inhalatoria en la España del siglo XIX.
Rev Esp Anestesiol Reanim
; 48(5): 235-43, 2001 May.
Artigo
Espanhol
| MEDLINE | ID: mdl-11412734
19.
[Latex allergy. Reaction to intraoperative anaphylaxis]. / Alergia al látex. Reacción de anafilaxia intraoperatoria.
Rev Esp Anestesiol Reanim
; 44(9): 371-3, 1997 Nov.
Artigo
Espanhol
| MEDLINE | ID: mdl-9463208
20.
[Syndromic hereditary deafness. Usher's syndrome. Oto-neurologic and genetic factors]. / Sordera hereditaria sindrómica: síndrome de Usher. Aspectos otoneurológicos y genéticos.
An Otorrinolaringol Ibero Am
; 26(1): 83-95, 1999.
Artigo
Espanhol
| MEDLINE | ID: mdl-10091368