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Page 1
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
Eggers S, Sadedin S, van den Bergen JA, Robevska G, Ohnesorg T, Hewitt J, Lambeth L, Bouty A, Knarston IM, Tan TY, Cameron F, Werther G, Hutson J, O'Connell M, Grover SR, Heloury Y, Zacharin M, Bergman P, Kimber C, Brown J, Webb N, Hunter MF, Srinivasan S, Titmuss A, Verge CF, Mowat D, Smith G, Smith J, Ewans L, Shalhoub C, Crock P, Cowell C, Leong GM, Ono M, Lafferty AR, Huynh T, Visser U, Choong CS, McKenzie F, Pachter N, Thompson EM, Couper J, Baxendale A, Gecz J, Wheeler BJ, Jefferies C, MacKenzie K, Hofman P, Carter P, King RI, Krausz C, van Ravenswaaij-Arts CM, Looijenga L, Drop S, Riedl S, Cools M, Dawson A, Juniarto AZ, Khadilkar V, Khadilkar A, Bhatia V, Dũng VC, Atta I, Raza J, Thi Diem Chi N, Hao TK, Harley V, Koopman P, Warne G, Faradz S, Oshlack A, Ayers KL, Sinclair AH. Eggers S, et al. Among authors: visser u. Genome Biol. 2016 Nov 29;17(1):243. doi: 10.1186/s13059-016-1105-y. Genome Biol. 2016. PMID: 27899157 Free PMC article.
Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study.
Bowman P, Sulen Å, Barbetti F, Beltrand J, Svalastoga P, Codner E, Tessmann EH, Juliusson PB, Skrivarhaug T, Pearson ER, Flanagan SE, Babiker T, Thomas NJ, Shepherd MH, Ellard S, Klimes I, Szopa M, Polak M, Iafusco D, Hattersley AT, Njølstad PR; Neonatal Diabetes International Collaborative Group. Bowman P, et al. Lancet Diabetes Endocrinol. 2018 Aug;6(8):637-646. doi: 10.1016/S2213-8587(18)30106-2. Epub 2018 Jun 4. Lancet Diabetes Endocrinol. 2018. PMID: 29880308 Free PMC article.
Data reporting quality and semantic interoperability increase with community-based data elements (CoDEs). Analysis of the open data commons for spinal cord injury (ODC-SCI).
Sheoran A, Fond KA, Davis LM, Huie JR, Vavrek R, Axtman PJ, Lemmon V, Bixby JL, Visser U, Gensel JC, Fouad K, Ferguson AR, Grethe JS, Bandrowski A, Martone ME, Torres-Espin A. Sheoran A, et al. Among authors: visser u. Exp Neurol. 2024 Dec 7;385:115100. doi: 10.1016/j.expneurol.2024.115100. Online ahead of print. Exp Neurol. 2024. PMID: 39647573 Free article.
The computerized LASSI-BC Test versus the Standard LASSI-L Paper-and-Pencil Version in Community-Based-Samples.
Cid REC, Ortega A, Visser U, Kitaigorodsky M, Zheng DD, Hincapie D, Crenshaw KH, Beaulieu A, Bosworth B, Gallardo L, Neer E, Ramirez S, Crocco EA, Georgiou M, Sfakianaki E, Loewenstein DA. Cid REC, et al. Among authors: visser u. Adv Alzheimer Dis. 2024 Mar;13(1):11-25. doi: 10.4236/aad.2024.131002. Epub 2024 Mar 29. Adv Alzheimer Dis. 2024. PMID: 39035045 Free PMC article.
A Novel Computerized Cognitive Test for the Detection of Mild Cognitive Impairment and Its Association with Neurodegeneration in Alzheimer's Disease Prone Brain Regions.
Curiel Cid RE, Zheng DD, Kitaigorodsky M, Adjouadi M, Crocco EA, Georgiou M, Gonzalez-Jimenez C, Ortega A, Goryawala M, Nagornaya N, Pattany P, Sfakianaki E, Visser U, Loewenstein DA. Curiel Cid RE, et al. Among authors: visser u. Adv Alzheimer Dis. 2023 Sep;12(3):38-54. doi: 10.4236/aad.2023.123004. Epub 2023 Sep 12. Adv Alzheimer Dis. 2023. PMID: 38873169 Free PMC article.
21 results