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1.
Musculoskeletal pain and muscular weakness as the main symptoms of adult hypophosphatasia in a Spanish cohort: clinical characterization and identification of a new ALPL gene variant.
J Bone Miner Metab
; 41(5): 654-665, 2023 Sep.
Article
in English
| MEDLINE | ID: mdl-37351650
2.
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.
Article
in English
| MEDLINE | ID: mdl-33228555
3.
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.
Article
in English, Spanish
| MEDLINE | ID: mdl-38075944
4.
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.
Article
in English
| MEDLINE | ID: mdl-37365821
5.
[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.
Article
in English, Spanish
| MEDLINE | ID: mdl-35999075
6.
Beyond the method change in clinical practice: evaluation of insulin-like growth factor I assay.
Adv Lab Med
; 3(4): 397-406, 2022 Dec.
Article
in English, Spanish
| MEDLINE | ID: mdl-37363432
7.
A novel pathogenic variant in LCAT causing FLD. A case report.
Acta Clin Belg
; 77(6): 970-975, 2022 Dec.
Article
in English
| MEDLINE | ID: mdl-34789074
8.
The role of oxidative stress in neurodegenerative diseases and potential antioxidant therapies.
Adv Lab Med
; 3(4): 342-360, 2022 Dec.
Article
in English, Spanish
| MEDLINE | ID: mdl-37363428
9.
A study of crystalluria: effectiveness of including hygienic-dietary recommendations in laboratory reports.
Adv Lab Med
; 2(1): 109-120, 2021 Mar.
Article
in English, Spanish
| MEDLINE | ID: mdl-37359207
10.
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.
Article
in English, Spanish
| MEDLINE | ID: mdl-37362409
11.
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.
Article
in English, Spanish
| MEDLINE | ID: mdl-37360614
12.
Microdeleciones del gen AZF en varones azoospérmicos-oligozoospérmicos / AZF gene microdeletions in azoospermicoligozoospermic males
Med. clín (Ed. impr.)
; 160(4): 151-155, febrero 2023. ilus, tab
Article
in Spanish
| IBECS (Spain) | ID: ibc-215669
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