Detalhe da pesquisa
1.
Diversity of oncopharmacogenetic profile within Spanish population.
Pharmacogenet Genomics
; 2024 Mar 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38488402
2.
Spinocerebellar ataxia type 15 caused by missense variants in the ITPR1 gene.
Eur J Neurol
; 30(8): 2539-2543, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37154409
3.
CSF1R-related Adult-onset Leukoencephalopathy: The First Reported Case in Spain.
Alzheimer Dis Assoc Disord
; 37(2): 171-173, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37253125
4.
Incidence of Huntington disease in a northeastern Spanish region: a 13-year retrospective study at tertiary care centre.
BMC Med Genet
; 21(1): 233, 2020 11 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33228555
5.
Rasopathies case report: concurrence of two pathogenic variations de novo in NF1 and KRAS genes in a patient.
BMC Pediatr
; 19(1): 92, 2019 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30953504
6.
Familial clustering of primary lateral sclerosis and amyotrophic lateral sclerosis: Supplementary evidence for a continuum.
Eur J Neurol
; 29(1): e1-e2, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34694663
7.
Inaugural cognitive decline, late disease onset and novel STUB1 variants in SCAR16.
Neurol Sci
; 39(12): 2231-2233, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30206723
8.
No increase in the CTG repeat size during transmission from parent with expanded allele: false suspicion of contraction phenomenon.
Adv Lab Med
; 4(2): 185-194, 2023 Jun.
Artigo
em Inglês, Espanhol
| MEDLINE | ID: mdl-38075944
9.
Association Between VDR and CYP24A1 Polymorphisms, Atopic Dermatitis, and Biochemical Lipid and Vitamin D Profiles in Spanish Population: Case-Control Study.
JMIR Dermatol
; 6: e39567, 2023 Jun 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37632926
10.
First case of very late-onset FHL2 in Spain with two variants in the PRF1 gene.
Ann Clin Biochem
; 60(5): 356-364, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37365821
11.
[AZF gene microdeletions in azoospermic-oligozoospermic males]. / Microdeleciones del gen AZF en varones azoospérmicos-oligozoospérmicos.
Med Clin (Barc)
; 160(4): 151-155, 2023 02 24.
Artigo
em Inglês, Espanhol
| MEDLINE | ID: mdl-35999075
12.
[Allan-Herndon-Dudley syndrome: a diagnosis to rule out in any male infant with undiagnosed hypotonia]. / Síndrome de Allan-Herndon-Dudley: un diagnóstico a descartar ante todo lactante varón con hipotonía sin causa determinada.
Andes Pediatr
; 93(3): 428-433, 2022 Jun.
Artigo
em Espanhol
| MEDLINE | ID: mdl-35857015
13.
Initial Cerebellar Ataxia in Hereditary Adult-Onset Primary Lateral Sclerosis.
Case Rep Neurol
; 13(2): 414-421, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34326749
14.
Episodic Vestibulocerebellar Ataxia Associated with a CACNA1G Missense Variant.
Case Rep Neurol
; 13(2): 347-354, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34248568
15.
A study of crystalluria: effectiveness of including hygienic-dietary recommendations in laboratory reports.
Adv Lab Med
; 2(1): 109-120, 2021 Mar.
Artigo
em Inglês, Espanhol
| MEDLINE | ID: mdl-37359207
16.
A novel variant in the COL4A3 gene: etiology of Alport syndrome type 2 in a 38-year-old male with suspected hereditary kidney disease.
Adv Lab Med
; 2(3): 451-462, 2021 Aug.
Artigo
em Inglês, Espanhol
| MEDLINE | ID: mdl-37362409
17.
Management of postanalytical processes in the clinical laboratory according to ISO 15189:2012 Standard requirements: considerations on the review, reporting and release of results.
Adv Lab Med
; 2(1): 51-70, 2021 Mar.
Artigo
em Inglês, Espanhol
| MEDLINE | ID: mdl-37359206
18.
Management of post-analytical processes in the clinical laboratory according to ISO 15189:2012. Considerations about the management of clinical samples, ensuring quality of post-analytical processes, and laboratory information management.
Adv Lab Med
; 2(3): 373-389, 2021 Aug.
Artigo
em Inglês, Espanhol
| MEDLINE | ID: mdl-37362414
19.
A variant of the gene HARS detected in the clinical exome: etiology of a peripheral neuropathy undiagnosed for 20 years.
Adv Lab Med
; 1(4): 20200033, 2020 Dec.
Artigo
em Inglês, Espanhol
| MEDLINE | ID: mdl-37360614
20.
Effect of AGG Interruptions on FMR1 Maternal Transmissions.
Front Mol Biosci
; 7: 135, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32766278