Detalhe da pesquisa
1.
Exploring genetic testing requests, genetic alterations and clinical associations in a cohort of children with autism spectrum disorder.
Eur Child Adolesc Psychiatry
; 2024 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38587680
2.
Accuracy diagnosis improvement of Fabry disease from dried blood spots: Enzyme activity, lyso-Gb3 accumulation and GLA gene sequencing.
Clin Genet
; 99(6): 761-771, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33527381
3.
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.
Am J Hum Genet
; 101(6): 1021-1033, 2017 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29220674
4.
Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor.
Clin Genet
; 97(3): 467-476, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31972898
5.
Clinical course of sly syndrome (mucopolysaccharidosis type VII).
J Med Genet
; 53(6): 403-18, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26908836
6.
Heterogeneity of a Constitutional Complex Chromosomal Rearrangement in 2q.
Cytogenet Genome Res
; 148(2-3): 156-64, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27216161
7.
Interstitial 10p deletion derived from a maternal ins(16;10)(q22;p13p15.2): Report of the first familial case of 10p monosomy affecting to two familial members of different generations.
Am J Med Genet A
; 170A(5): 1268-73, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26762557
8.
Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program.
Orphanet J Rare Dis
; 19(1): 189, 2024 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38715031
9.
Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy.
Front Cell Dev Biol
; 12: 1321282, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38505260
10.
Molecular analysis of mucopolysaccharidosis IVA (Morquio A) in Spain.
Mol Genet Metab
; 106(2): 196-201, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22521955
11.
Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort.
Orphanet J Rare Dis
; 16(1): 445, 2021 10 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34686181
12.
Genotype-phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants.
Orphanet J Rare Dis
; 16(1): 233, 2021 05 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34020684
13.
Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region.
BMC Med Genet
; 11: 137, 2010 Sep 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-20860806
14.
Macrocephaly-capillary malformation: Analysis of 13 patients and review of the diagnostic criteria.
Am J Med Genet A
; 152A(12): 3101-6, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21077203
15.
Genetic Diagnosis of Rare Diseases: Past and Present.
Adv Ther
; 37(Suppl 2): 29-37, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32236876
16.
Lacosamide intake during pregnancy increases the incidence of foetal malformations and symptoms associated with schizophrenia in the offspring of mice.
Sci Rep
; 10(1): 7615, 2020 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32376856
17.
Expanding the clinical and mutational spectrum of germline ABL1 mutations-associated syndrome: A case report.
Medicine (Baltimore)
; 98(10): e14782, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30855488
18.
Diagnosis and follow-up of patients with Hunter syndrome in Spain: A Delphi consensus.
Medicine (Baltimore)
; 97(29): e11246, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30024503
19.
[Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients]. / Síndrome cardiofaciocutáneo, un trastorno relacionado con el síndrome de Noonan: hallazgos clínicos y moleculares en 11 pacientes.
Med Clin (Barc)
; 144(2): 67-72, 2015 Jan 20.
Artigo
em Espanhol
| MEDLINE | ID: mdl-25194980
20.
[Combined methylmalonic acidemia and homocystinuria; a case report]. / Combinación de acidemia metilmalónica y homocisteinuria; a propósito de un caso.
Nutr Hosp
; 31(4): 1885-8, 2015 Apr 01.
Artigo
em Espanhol
| MEDLINE | ID: mdl-25795986