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Year | Number of Results |
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2022 | 1 |
2023 | 5 |
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Page 1
Vitamin D deficiency in adulthood: Presentation of 2familial cases simulating pseudohypoparathyroidism.
Med Clin (Barc). 2023 Dec 7;161(11):493-497. doi: 10.1016/j.medcli.2023.06.009. Epub 2023 Jul 25.
Med Clin (Barc). 2023.
PMID: 37500374
English, Spanish.
Incidental finding at methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA): how to proceed?
Manero-Azua A, Pereda A, Llano-Rivas I, Garin I, Perez de Nanclares G.
Manero-Azua A, et al.
Front Genet. 2023 Oct 3;14:1274056. doi: 10.3389/fgene.2023.1274056. eCollection 2023.
Front Genet. 2023.
PMID: 37854056
Free PMC article.
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Analysis of a large case series of fatal familial insomnia to determine tests with the highest diagnostic value.
Kortazar-Zubizarreta I, Eraña H, Pereda A, Charco JM, Manero-Azua A, Ruiz-Onandi R, Aguirre U, Gonzalez-Chinchon G; Basque Prionopathies Study Group; Perez de Nanclares G, Castilla J.
Kortazar-Zubizarreta I, et al. Among authors: manero azua a.
J Neuropathol Exp Neurol. 2023 Jan 20;82(2):169-179. doi: 10.1093/jnen/nlac113.
J Neuropathol Exp Neurol. 2023.
PMID: 36458954
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C9ORF72 Gene GGGGCC Hexanucleotide Expansion: A High Clinical Variability from Amyotrophic Lateral Sclerosis to Frontotemporal Dementia.
Kortazar-Zubizarreta I, Manero-Azua A, Afonso-Agüera J, Perez de Nanclares G.
Kortazar-Zubizarreta I, et al. Among authors: manero azua a.
J Pers Med. 2023 Sep 19;13(9):1396. doi: 10.3390/jpm13091396.
J Pers Med. 2023.
PMID: 37763163
Free PMC article.
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Frequency of de novo variants and parental mosaicism in families with inactivating PTH/PTHrP signaling disorder type 2.
Vado Y, Pereda A, Manero-Azua A; Spanish Network for Imprinting Disorders; Perez de Nanclares G.
Vado Y, et al. Among authors: manero azua a.
Front Endocrinol (Lausanne). 2023 Jan 4;13:1055431. doi: 10.3389/fendo.2022.1055431. eCollection 2022.
Front Endocrinol (Lausanne). 2023.
PMID: 36686455
Free PMC article.
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Choosing the Best Tissue and Technique to Detect Mosaicism in Fibrous Dysplasia/McCune-Albright Syndrome (FD/MAS).
Vado Y, Manero-Azua A, Pereda A, Perez de Nanclares G.
Vado Y, et al. Among authors: manero azua a.
Genes (Basel). 2024 Jan 18;15(1):120. doi: 10.3390/genes15010120.
Genes (Basel). 2024.
PMID: 38255009
Free PMC article.
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