Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

77 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy.
Buchert R, Burkhalter MD, Huridou C, Sofan L, Roser T, Cremer K, Alvi JR, Efthymiou S, Froukh T, Gulieva S, Guliyeva U, Hamdallah M, Holder-Espinasse M, Kaiyrzhanov R, Klingler D, Koko M, Matthies L, Park J, Sturm M, Velic A, Spranger S, Sultan T, Engels H, Lerche H, Houlden H, Pagnamenta AT, Borggraefe I, Weber Y, Bonnen PE, Maroofian R, Riess O, Weber JJ, Philipp M, Haack TB. Buchert R, et al. Among authors: roser t. Am J Hum Genet. 2025 Jan 10:S0002-9297(24)00461-0. doi: 10.1016/j.ajhg.2024.12.019. Online ahead of print. Am J Hum Genet. 2025. PMID: 39824192 Free article.
Fetal, Neonatal and Pediatric Neuroradiology.
Roser T, Paolini M. Roser T, et al. Neuropediatrics. 2024 Dec;55(6):427-428. doi: 10.1055/s-0044-1791811. Epub 2025 Jan 7. Neuropediatrics. 2024. PMID: 39775453 No abstract available.
Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex (TSC) under 4 months of age (PROTECT), a two-arm, randomized, observer-blind, controlled phase IIb national multicentre clinical trial: study protocol.
Driedger JH, Schröter J; PROTECT-Study Group; Syrbe S, Saffari A. Driedger JH, et al. Orphanet J Rare Dis. 2025 Jan 6;20(1):2. doi: 10.1186/s13023-024-03495-1. Orphanet J Rare Dis. 2025. PMID: 39762914 Free PMC article.
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression.
Pehlivan D, Bengtsson JD, Bajikar SS, Grochowski CM, Lun MY, Gandhi M, Jolly A, Trostle AJ, Harris HK, Suter B, Aras S, Ramocki MB, Du H, Mehaffey MG, Park K, Wilkey E, Karakas C, Eisfeldt JJ, Pettersson M, Liu L, Shinawi MS, Kimonis VE, Wiszniewski W, Mckenzie K, Roser T, Vianna-Morgante AM, Cornier AS, Abdelmoity A, Hwang JP, Jhangiani SN, Muzny DM, Mitani T, Muramatsu K, Nabatame S, Glaze DG, Fatih JM, Gibbs RA, Liu Z, Lindstrand A, Sedlazeck FJ, Lupski JR, Zoghbi HY, Carvalho CMB. Pehlivan D, et al. Among authors: roser t. Genome Med. 2024 Dec 18;16(1):146. doi: 10.1186/s13073-024-01411-7. Genome Med. 2024. PMID: 39696717 Free PMC article.
Treatment Failure After Repair of Displaced Femoral Neck Fractures in Patients Compared by "Decade of Life": An Analysis of 565 Cases in Adults Less Than 60 years of Age.
Collinge CA, Giga K, Roser T, Lebus GF, Beltran MJ, Crist B, Sems SA, Gardner MJ, Sagi HC, Archdeacon MT, Mir HR, Rodriguez-Buitrago A, Mitchell P, Tornetta P 3rd; Young Femoral Neck Fracture Working Group. Collinge CA, et al. Among authors: roser t. J Orthop Trauma. 2024 Aug 1;38(8):418-425. doi: 10.1097/BOT.0000000000002840. J Orthop Trauma. 2024. PMID: 39007657
Optimal Fixation Strategies for Displaced Femoral Neck Fractures in Patients 18-59 Years of Age: An Analysis of 565 Cases Treated at 26 Level 1 Trauma Centers.
Roser T, Collinge CA, Giga K, Lebus GF, Beltran MJ, Crist B, Sems SA, Gardner MJ, Sagi HC, Archdeacon MT, Mir HR, Rodriguez-Buitrago A, Mitchell P, Tornetta P 3rd; Young Femoral Neck Fracture Working Group. Roser T, et al. J Orthop Trauma. 2024 Aug 1;38(8):403-409. doi: 10.1097/BOT.0000000000002828. J Orthop Trauma. 2024. PMID: 39007655
77 results