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Page 1
Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delay.
Tan S, Zhang Q, Zhan R, Luo S, Han Y, Yu B, Muss C, Pingault V, Marlin S, Delahaye A, Peters S, Perne C, Kreiß M, Spataro N, Trujillo-Quintero JP, Racine C, Tran-Mau-Them F, Phornphutkul C, Besterman AD, Martinez J, Wang X, Tian X, Srivastava S, Urion DK, Madden JA, Saif HA, Morrow MM, Begtrup A, Li X, Jurgensmeyer S, Leahy P, Zhou S, Li F, Hu Z, Tan J, Xia K, Guo H. Tan S, et al. Among authors: marlin s. Mol Psychiatry. 2024 Oct 29. doi: 10.1038/s41380-024-02806-z. Online ahead of print. Mol Psychiatry. 2024. PMID: 39472663
The phenotypic spectrum of CEP250 gene variants.
Courdier C, Dhaenens CM, Grunewald O, Guerrot AM, Audo I, Lecleire-Collet A, Amstutz-Montadert I, Gad S, Lapeyre G, Zanlonghi X, Bonneau D, Fradin M, Le Meur G, Marlin S, Blanc P, Roux AF, Meunier I, Michaud V. Courdier C, et al. Among authors: marlin s. Ophthalmic Genet. 2024 Nov 28:1-8. doi: 10.1080/13816810.2024.2434045. Online ahead of print. Ophthalmic Genet. 2024. PMID: 39610034
Adaptive designs in clinical trials: a systematic review-part I.
Ben-Eltriki M, Rafiq A, Paul A, Prabhu D, Afolabi MOS, Baslhaw R, Neilson CJ, Driedger M, Mahmud SM, Lacaze-Masmonteil T, Marlin S, Offringa M, Butcher N, Heath A, Kelly LE. Ben-Eltriki M, et al. Among authors: marlin s. BMC Med Res Methodol. 2024 Oct 4;24(1):229. doi: 10.1186/s12874-024-02272-9. BMC Med Res Methodol. 2024. PMID: 39367313 Free PMC article.
HDR syndrome: Large cohort and systematic review.
Rive Le Gouard N, Lafond-Rive V, Jonard L, Loundon N, Achard S, Heidet L, Mosnier I, Lyonnet S, Brioude F, Serey Gaut M, Marlin S. Rive Le Gouard N, et al. Among authors: marlin s. Clin Genet. 2024 Nov;106(5):564-573. doi: 10.1111/cge.14583. Epub 2024 Jun 28. Clin Genet. 2024. PMID: 38940299
Patient and Public Perceptions in Canada About Decentralized and Hybrid Clinical Trials: "It's About Time we Bring Trials to People".
Richards DP, Queenan J, Aasen-Johnston L, Douglas H, Hawrysh T, Lapenna M, Lillie D, McIntosh EI, Shea J, Smith M, Marlin S. Richards DP, et al. Among authors: marlin s. Ther Innov Regul Sci. 2024 Sep;58(5):965-977. doi: 10.1007/s43441-024-00665-y. Epub 2024 Jun 21. Ther Innov Regul Sci. 2024. PMID: 38904884 Free PMC article.
TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus.
Duy PQ, Jux B, Zhao S, Mekbib KY, Dennis E, Dong W, Nelson-Williams C, Mehta NH, Shohfi JP, Juusola J, Allington G, Smith H, Marlin S, Belhous K, Monteleone B, Schaefer GB, Pisarska MD, Vásquez J, Estrada-Veras JI, Keren B, Mignot C, Flore LA, Palafoll IV, Alper SL, Lifton RP, Haider S, Moreno-De-Luca A, Jin SC, Kolanus W, Kahle KT. Duy PQ, et al. Among authors: marlin s. Brain. 2024 Dec 3;147(12):4292-4305. doi: 10.1093/brain/awae175. Brain. 2024. PMID: 38833623
Artificial intelligence-based diagnosis in fetal pathology using external ear shapes.
Hennocq Q, Garcelon N, Bongibault T, Bouygues T, Marlin S, Amiel J, Boutaud L, Douillet M, Lyonnet S, Pingault V, Picard A, Rio M, Attie-Bitach T, Khonsari RH, Roux N. Hennocq Q, et al. Among authors: marlin s. Prenat Diagn. 2024 Sep;44(10):1150-1158. doi: 10.1002/pd.6577. Epub 2024 Apr 18. Prenat Diagn. 2024. PMID: 38635411
213 results