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997 results

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Page 1
Insights into Central Congenital Hypothyroidism: A Multicenter Retrospective Analysis.
German A, Almashanu S, de Vries L, Gil Margolis M, Halloun R, Haim A, Eyal O, Levy-Khademi F, Pivko-Levy D, Nir J, Pinhas-Hamiel O, Tenenbaum-Rakover Y. German A, et al. Among authors: de vries l. J Clin Endocrinol Metab. 2024 Jul 15:dgae485. doi: 10.1210/clinem/dgae485. Online ahead of print. J Clin Endocrinol Metab. 2024. PMID: 39008607
Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism.
Wakeling MN, Owens NDL, Hopkinson JR, Johnson MB, Houghton JAL, Dastamani A, Flaxman CS, Wyatt RC, Hewat TI, Hopkins JJ, Laver TW, van Heugten R, Weedon MN, De Franco E, Patel KA, Ellard S, Morgan NG, Cheesman E, Banerjee I, Hattersley AT, Dunne MJ; International Congenital Hyperinsulinism Consortium; Richardson SJ, Flanagan SE. Wakeling MN, et al. Nat Genet. 2022 Nov;54(11):1615-1620. doi: 10.1038/s41588-022-01204-x. Epub 2022 Nov 4. Nat Genet. 2022. PMID: 36333503 Free PMC article.
Temporal Trends in Acute Adrenal Insufficiency Events in Children With Congenital Adrenal Hyperplasia During 2019-2022.
Tseretopoulou X, Ali SR, Bryce J, Amin N, Atapattu N, Bachega TASS, Baronio F, Ortolano R, Birkebaek NH, Bonfig W, Cools M, Davies JH, Thomas T, de Vries L, Elsedfy H, Amr NH, Flueck CE, Globa E, Guran T, Yavas-Abali Z, Guven A, Hannema SE, Iotova V, Konrad D, Lenherr-Taube N, Krone NP, Leka-Emiri S, Vlachopapadopoulou E, Lichiardopol C, Marginean O, Markosyan R, Neumann U, Niedziela M, Banaszak-Ziemska M, Phan-Hug F, Poyrazoglu S, Probst-Scheidegger U, Randell T, Russo G, Salerno M, Seneviratne S, Shnorhavorian M, Thankamony A, Tadokoro-Curraro R, van den Akker E, van Eck J, Vieites A, Wasniewska M, Ahmed SF. Tseretopoulou X, et al. Among authors: de vries l. J Endocr Soc. 2024 Aug 20;8(10):bvae145. doi: 10.1210/jendso/bvae145. eCollection 2024 Aug 27. J Endocr Soc. 2024. PMID: 39258010 Free PMC article.
Timing of cerebral damage in molybdenum cofactor deficiency: A meta-analysis of case reports.
Ferreira EA, Hofstede FC, Haijes-Siepel HA, Lichtenbelt KD, Pistorius L, de Sain-van der Velden MGM, Nikkels PGJ, Lequin MH, de Vries LS, van der Crabben SN, van Hasselt PM. Ferreira EA, et al. Among authors: de vries ls. Genet Med Open. 2024 May 24;2:101853. doi: 10.1016/j.gimo.2024.101853. eCollection 2024. Genet Med Open. 2024. PMID: 39669634 Free PMC article.
Mapping Plasmodium transitions and interactions in the Anopheles female.
Yan Y, Cheung E, Verzier LH, Appetecchia F, March S, Craven AR, Du E, Probst AS, Rinvee TA, de Vries LE, Kauffman J, Bhatia SN, Nelson E, Singh N, Peng D, Shaw WR, Catteruccia F. Yan Y, et al. Among authors: de vries le. bioRxiv [Preprint]. 2024 Nov 13:2024.11.12.623125. doi: 10.1101/2024.11.12.623125. bioRxiv. 2024. PMID: 39605504 Free PMC article. Preprint.
An improved calibration procedure for accurate plastic scintillation dosimetry on an MR-linac.
van den Dobbelsteen M, Lessard B, Côté B, Hackett SL, Mugnes JM, Therriault-Proulx F, Lambert-Girard S, Uijtewaal P, de Vries LJM, Archambault L, Bosma T, van Asselen B, Raaymakers BW, Fast MF. van den Dobbelsteen M, et al. Among authors: de vries ljm. Phys Med Biol. 2024 Dec 9;69(24). doi: 10.1088/1361-6560/ad9544. Phys Med Biol. 2024. PMID: 39569938
997 results