Genetic mimics of cerebral palsy.
Pearson TS, Pons R, Ghaoui R, Sue CM.
Mov Disord. 2019 May;34(5):625-636. doi: 10.1002/mds.27655. Epub 2019 Mar 26.
Copper deficiency anemia: review article.
Myint ZW, Oo TH, Thein KZ, Tun AM, Saeed H.
Ann Hematol. 2018 Sep;97(9):1527-1534. doi: 10.1007/s00277-018-3407-5. Epub 2018 Jun 29.
Therapeutic targeting of mismatch repair-deficient cancers.
Johannet P, Rousseau B, Aghajanian C, Foote MB, Diaz LA Jr.
Nat Rev Clin Oncol. 2025 Oct;22(10):734-759. doi: 10.1038/s41571-025-01054-6. Epub 2025 Jul 10.
Proceedings of the 3rd IPLeiria's International Health Congress : Leiria, Portugal. 6-7 May 2016.
Tomás CC, Oliveira E, Sousa D, Uba-Chupel M, Furtado G, Rocha C, Teixeira A, Ferreira P, Alves C, Gisin S, Catarino E, Carvalho N, Coucelo T, Bonfim L, Silva C, Franco D, González JA, Jardim HG, Silva R, Baixinho CL, Presado MªH, Marques MªF, Cardoso ME, Cunha M, Mendes J, Xavier A, Galhardo A, Couto M, Frade JG, Nunes C, Mesquita JR, Nascimento MS, Gonçalves G, Castro C, Mártires A, Monteiro MªJ, Rainho C, Caballero FP, Monago FM, Guerrero JT, Monago RM, Trigo AP, Gutierrez ML, Milanés GM, Reina MG, Villanueva AG, Piñero AS, Aliseda IR, Ramirez FB, Ribeiro A, Quelhas A, Manso C, Caballero FP, Guerrero JT, Monago FM, Santos RB, Jimenez NR, Nuñez CG, Gomez IR, Fernandez MªJL, Marquez LA, Moreno AL, Huertas MªJT, Ramirez FB, Seabra D, Salvador MªC, Braga L, Parreira P, Salgueiro-Oliveira A, Arreguy-Sena C, Oliveira BF, Henriques MªA, Santos J, Lebre S, Marques A, Festas C, Rodrigues S, Ribeiro A, Lumini J, Figueiredo AG, Hernandez-Martinez FJ, Campi L, Quintana-Montesdeoca MªP, Jimenez-Diaz JF, Rodriguez-De-Vera BC, Parente A, Mata MªA, Pereira AMª, Fernandes A, Brás M, Pinto MªR, Parreira P, Basto ML, Rei AC, Mónico LM, Sousa G, Morna C, Freitas O, Freitas G, Jardim A, Vasconcelos …
BMC Health Serv Res. 2016 Jul 6;16 Suppl 3(Suppl 3):200. doi: 10.1186/s12913-016-1423-5.
PRSS1-Related Hereditary Pancreatitis.
Whitcomb DC.
2012 Mar 1 [updated 2025 Mar 27]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report.
Eckardt KU, Alper SL, Antignac C, Bleyer AJ, Chauveau D, Dahan K, Deltas C, Hosking A, Kmoch S, Rampoldi L, Wiesener M, Wolf MT, Devuyst O; Kidney Disease: Improving Global Outcomes.
Kidney Int. 2015 Oct;88(4):676-83. doi: 10.1038/ki.2015.28. Epub 2015 Mar 4.
Cerebro-oculo-facio-skeletal syndrome.
Suzumura H, Arisaka O.
Adv Exp Med Biol. 2010;685:210-4. doi: 10.1007/978-1-4419-6448-9_19.
Hereditary SWI/SNF complex deficiency syndromes.
Agaimy A, Foulkes WD.
Semin Diagn Pathol. 2018 May;35(3):193-198. doi: 10.1053/j.semdp.2018.01.002. Epub 2018 Feb 1.
Osteoporosis in men.
Scane AC, Sutcliffe AM, Francis RM.
Baillieres Clin Rheumatol. 1993 Oct;7(3):589-601. doi: 10.1016/s0950-3579(05)80081-0.
OTUD7a Accelerates Pathological Cardiac Hypertrophy via TAK1 Activation.
Gao L, Cao J, Li Y, Ji X, Wu Q, Guo S, Cai X, Li K, Sun Y, Xiao L, Du Y, Zheng Z, Wang X.
Circ Res. 2026 Jan 2;138(1):e326647. doi: 10.1161/CIRCRESAHA.125.326647. Epub 2025 Nov 21.
