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Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.
Neuser S, Brechmann B, Heimer G, Brösse I, Schubert S, O'Grady L, Zech M, Srivastava S, Sweetser DA, Dincer Y, Mall V, Winkelmann J, Behrends C, Darras BT, Graham RJ, Jayakar P, Byrne B, Bar-Aluma BE, Haberman Y, Szeinberg A, Aldhalaan HM, Hashem M, Al Tenaiji A, Ismayl O, Al Nuaimi AE, Maher K, Ibrahim S, Khan F, Houlden H, Ramakumaran VS, Pagnamenta AT, Posey JE, Lupski JR, Tan WH, ElGhazali G, Herman I, Muñoz T, Repetto GM, Seitz A, Krumbiegel M, Poli MC, Kini U, Efthymiou S, Meiler J, Maroofian R, Alkuraya FS, Abou Jamra R, Popp B, Ben-Zeev B, Ebrahimi-Fakhari D. Neuser S, et al. Among authors: munoz t. Hum Mutat. 2021 Jun;42(6):762-776. doi: 10.1002/humu.24206. Epub 2021 May 11. Hum Mutat. 2021. PMID: 33847017
Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014).
Gannavarapu S, Prasad C, DiRaimo J, Napier M, Goobie S, Potter M, Chakraborty P, Karaceper M, Munoz T, Schulze A, MacKenzie J, Li L, Geraghty MT, Al-Dirbashi OY, Rupar CA. Gannavarapu S, et al. Among authors: munoz t. Mol Genet Metab. 2015 Nov;116(3):146-51. doi: 10.1016/j.ymgme.2015.08.010. Epub 2015 Aug 31. Mol Genet Metab. 2015. PMID: 26361991
Severe Neonatal Cholestasis as an Early Presentation of McCune-Albright Syndrome.
Coles N, Comeau I, Munoz T, Harrington J, Mendoza-Londono R, Schulze A, Kives S, Kamath BM, Hamilton J. Coles N, et al. Among authors: munoz t. J Clin Res Pediatr Endocrinol. 2019 Feb 20;11(1):100-103. doi: 10.4274/jcrpe.galenos.2018.2018.0110. Epub 2018 Jul 11. J Clin Res Pediatr Endocrinol. 2019. PMID: 29991465 Free PMC article.
What's Sleep Got to Do With It?
Alcocer Alkureishi L, Hageman JR, Munoz TI. Alcocer Alkureishi L, et al. Among authors: munoz ti. Pediatr Ann. 2023 Sep;52(9):e313-e315. doi: 10.3928/19382359-20230809-01. Epub 2023 Sep 1. Pediatr Ann. 2023. PMID: 37695286 Free article. No abstract available.
Interobserver Variability in Contouring Hepatocellular Carcinoma at a Tertiary Center.
DE LA Pinta C, García JD, Sevillano D, Colmenares R, García Latorre R, Garví M, Pino V, Muriel A, Martín M, Fernández E, Hernanz R, Martín M, Domínguez JA, Muñóz T, Perna LC, Albillos A, Sancho S. DE LA Pinta C, et al. Among authors: munoz t. Cancer Diagn Progn. 2023 Jul 3;3(4):433-438. doi: 10.21873/cdp.10236. eCollection 2023 Jul-Aug. Cancer Diagn Progn. 2023. PMID: 37405211 Free PMC article.
Clinical relevance of timing of assessment of ICU mortality in patients with moderate-to-severe Acute Respiratory Distress Syndrome.
Villar J, González-Martin JM, Añón JM, Ferrando C, Soler JA, Mosteiro F, Mora-Ordoñez JM, Ambrós A, Fernández L, Montiel R, Vidal A, Muñoz T, Pérez-Méndez L, Rodríguez-Suárez P, Fernández C, Fernández RL, Szakmany T, Burns KEA, Steyerberg EW, Slutsky AS. Villar J, et al. Among authors: munoz t. Sci Rep. 2023 Jan 27;13(1):1543. doi: 10.1038/s41598-023-28824-5. Sci Rep. 2023. PMID: 36707634 Free PMC article.
82 results