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ADAM19 cleaves the PTH receptor and associates with brachydactyly type E.
Aydin A, Klenk C, Nemec K, Işbilir A, Martin LM, Zauber H, Rrustemi T, Toka HR, Schuster H, Gong M, Stricker S, Bock A, Bähring S, Selbach M, Lohse MJ, Luft FC. Aydin A, et al. Among authors: martin lm. Life Sci Alliance. 2024 Feb 8;7(4):e202302400. doi: 10.26508/lsa.202302400. Print 2024 Apr. Life Sci Alliance. 2024. PMID: 38331475 Free PMC article.
Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile.
Poli MC, Rebolledo-Jaramillo B, Lagos C, Orellana J, Moreno G, Martín LM, Encina G, Böhme D, Faundes V, Zavala MJ, Hasbún T, Fischer S, Brito F, Araya D, Lira M, de la Cruz J, Astudillo C, Lay-Son G, Cares C, Aracena M, Martin ES, Coban-Akdemir Z, Posey JE, Lupski JR, Repetto GM. Poli MC, et al. Among authors: martin lm. Eur J Hum Genet. 2024 Jan 4. doi: 10.1038/s41431-023-01523-5. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38177409
Corrigendum: Validation of the neuroconnective endophenotype questionnaire (NEQ): a new clinical tool for medicine and psychiatry resulting from the contribution of Ehlers-Danlos syndrome.
Bulbena A, Rosado S, Cabaleiro M, Martinez M, Baeza-Velasco C, Martin LM, Batlle S, Bulbena-Cabré A. Bulbena A, et al. Among authors: martin lm. Front Med (Lausanne). 2023 Dec 7;10:1338616. doi: 10.3389/fmed.2023.1338616. eCollection 2023. Front Med (Lausanne). 2023. PMID: 38143448 Free PMC article.
Hoarding behaviour: special features and complications in real-world clinical practice.
Córcoles D, Guerrero L, Malagon A, Bellsolà M, Gonzalez AM, León J, Sabaté A, Pérez V, Bulbena A, Martín LM, Mane A. Córcoles D, et al. Among authors: martin lm. Int J Psychiatry Clin Pract. 2024 Mar;28(1):17-26. doi: 10.1080/13651501.2023.2287755. Epub 2023 Nov 29. Int J Psychiatry Clin Pract. 2024. PMID: 38019133
SEOM-GEINO clinical guidelines for high-grade gliomas of adulthood (2022).
Segura PP, Quintela NV, García MM, Del Barco Berrón S, Sarrió RG, Gómez JG, Castaño AG, Martín LMN, Rubio OG, Losada EP. Segura PP, et al. Among authors: martin lmn. Clin Transl Oncol. 2023 Sep;25(9):2634-2646. doi: 10.1007/s12094-023-03245-y. Epub 2023 Aug 4. Clin Transl Oncol. 2023. PMID: 37540408 Free PMC article.
189 results