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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2003 2
2004 3
2005 3
2006 2
2011 1
2012 1
2015 2
2017 1
2021 5
2022 3
2023 9
2024 2

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30 results

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Page 1
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Pérez-Jurado LA, Aznar-Laín G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova R, Sedlacek Z, Keena BA, March ME, Hou C, O'Connor N, Bhoj EJ, Harr MH, Lemire G, Boycott KM, Towne M, Li M, Tarnopolsky M, Brady L, Parker MJ, Faghfoury H, Parsley LK, Agolini E, Dentici ML, Novelli A, Wright M, Palmquist R, Lai K, Scala M, Striano P, Iacomino M, Zara F, Cooper A, Maarup TJ, Byler M, Lebel RR, Balci TB, Louie R, Lyons M, Douglas J, Nowak C, Afenjar A, Hoyer J, Keren B, Maas SM, Motazacker MM, Martinez-Agosto JA, Rabani AM, McCormick EM, Falk MJ, Ruggiero SM, Helbig I, Møller RS, Tessarollo L, Tomassoni Ardori F, Palko ME, Hsieh TC, Krawitz PM, Ganapathi M, Gelb BD, Jobanputra V, Wilson A, Greally J, Jacquemont S, Jizi K, Bruel AL, Quelin C, Misra VK, Chick E, Romano C, Greco D, Arena A, Morleo M, Nigro V, Seyama R, Uchiyama Y, Matsumoto N, Taira R, Tashiro K, Sakai Y, Yigit G, Wollnik B, Wagner M, Kutsche B, Hurst AC, Thompson ML, Schmidt R, Randolph L, Spillmann RC, Shashi V, Higginbotham EJ, Cordeiro D, Carnevale A, Costain G, Khan T, Funalot B, Tran Mau-Them F, Fernandez … See abstract for full author list ➔ Li D, et al. Among authors: khan t. J Clin Invest. 2024 Jan 2;134(1):e171235. doi: 10.1172/JCI171235. J Clin Invest. 2024. PMID: 37962958 Free PMC article.
Impact of Silymarin Supplements on Liver Enzyme Levels: A Systematic Review.
Calderon Martinez E, Herrera D, Mogan S, Hameed Z, Jangda AA, Khan TJ, Mroke P, Sajid S, Shah YR, Baig I. Calderon Martinez E, et al. Among authors: khan tj. Cureus. 2023 Oct 24;15(10):e47608. doi: 10.7759/cureus.47608. eCollection 2023 Oct. Cureus. 2023. PMID: 38021897 Free PMC article. Review.
Trio RNA sequencing in a cohort of medically complex children.
Deshwar AR, Yuki KE, Hou H, Liang Y, Khan T, Celik A, Ramani A, Mendoza-Londono R, Marshall CR, Brudno M, Shlien A, Meyn MS, Hayeems RZ, McKinlay BJ, Klentrou P, Wilson MD, Kyriakopoulou L, Costain G, Dowling JJ. Deshwar AR, et al. Among authors: khan t. Am J Hum Genet. 2023 May 4;110(5):895-900. doi: 10.1016/j.ajhg.2023.03.006. Epub 2023 Mar 28. Am J Hum Genet. 2023. PMID: 36990084 Free PMC article.
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.
Scala M, Nishikawa M, Ito H, Tabata H, Khan T, Accogli A, Davids L, Ruiz A, Chiurazzi P, Cericola G, Schulte B, Monaghan KG, Begtrup A, Torella A, Pinelli M, Denommé-Pichon AS, Vitobello A, Racine C, Mancardi MM, Kiss C, Guerin A, Wu W, Gabau Vila E, Mak BC, Martinez-Agosto JA, Gorin MB, Duz B, Bayram Y, Carvalho CMB, Vengoechea JE, Chitayat D, Tan TY, Callewaert B, Kruse B, Bird LM, Faivre L, Zollino M, Biskup S; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Striano P, Nigro V, Severino M, Capra V, Costain G, Nagata KI. Scala M, et al. Among authors: khan t. Brain. 2022 Sep 14;145(9):3308-3327. doi: 10.1093/brain/awac106. Brain. 2022. PMID: 35851598 Free PMC article.
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.
D'Gama AM, Mulhern S, Sheidley BR, Boodhoo F, Buts S, Chandler NJ, Cobb J, Curtis M, Higginbotham EJ, Holland J, Khan T, Koh J, Liang NSY, McRae L, Nesbitt SE, Oby BT, Paternoster B, Patton A, Rose G, Scotchman E, Valentine R, Wiltrout KN; Gene-STEPS Study Group; IPCHiP Executive Committee; Hayeems RZ, Jain P, Lunke S, Marshall CR, Rockowitz S, Sebire NJ, Stark Z, White SM, Chitty LS, Cross JH, Scheffer IE, Chau V, Costain G, Poduri A, Howell KB, McTague A. D'Gama AM, et al. Among authors: khan t. Lancet Neurol. 2023 Sep;22(9):812-825. doi: 10.1016/S1474-4422(23)00246-6. Lancet Neurol. 2023. PMID: 37596007 Free article.
Lymphomatoid papulosis presenting on a finger.
Truong K, Janz-Robinson E, Khan T, Curtin P, Wells J. Truong K, et al. Among authors: khan t. Australas J Dermatol. 2021 Aug;62(3):e414-e416. doi: 10.1111/ajd.13599. Epub 2021 May 22. Australas J Dermatol. 2021. PMID: 34021584 No abstract available.
Insulin Pump Therapy vs Multiple Daily Insulin Injections for Glycemic Control in Children With Type 1 Diabetes: A Systematic Review and Meta-Analysis.
Calderon Martinez E, Castillo JL, Zachariah Saji S, Stein D, Khan TJ, Guardado Williams RF, Munguía ID, Arruarana VS, Velasquez K. Calderon Martinez E, et al. Among authors: khan tj. Cureus. 2024 Jan 10;16(1):e52054. doi: 10.7759/cureus.52054. eCollection 2024 Jan. Cureus. 2024. PMID: 38344584 Free PMC article. Review.
Self-monitoring of oral anticoagulation: systematic review and meta-analysis of individual patient data.
Heneghan C, Ward A, Perera R; Self-Monitoring Trialist Collaboration; Bankhead C, Fuller A, Stevens R, Bradford K, Tyndel S, Alonso-Coello P, Ansell J, Beyth R, Bernardo A, Christensen TD, Cromheecke ME, Edson RG, Fitzmaurice D, Gadisseur AP, Garcia-Alamino JM, Gardiner C, Hasenkam JM, Jacobson A, Kaatz S, Kamali F, Khan TI, Knight E, Körtke H, Levi M, Matchar D, Menéndez-Jándula B, Rakovac I, Schaefer C, Siebenhofer A, Souto JC, Sunderji R, Gin K, Shalansky K, Völler H, Wagner O, Zittermann A. Heneghan C, et al. Among authors: khan ti. Lancet. 2012 Jan 28;379(9813):322-34. doi: 10.1016/S0140-6736(11)61294-4. Epub 2011 Nov 30. Lancet. 2012. PMID: 22137798 Free article. Review.
Contemporary aetiologies of medical complexity in children: a cohort study.
Haque B, Khan T, Ushcatz I, Curtis M, Pan A, Wu W, Orkin J, Costain G. Haque B, et al. Among authors: khan t. Arch Dis Child. 2023 Feb;108(2):147-149. doi: 10.1136/archdischild-2022-325094. Epub 2022 Dec 9. Arch Dis Child. 2023. PMID: 36600318 Free PMC article. No abstract available.
30 results