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Genetic findings in short Turkish children born to consanguineous parents.
Joustra SD, Isik E, Wit JM, Catli G, Anik A, Haliloglu B, Kandemir N, Ozsu E, Hendriks YMC, de Bruin C, Kant SG, Campos-Barros A, Challis RC, Parry D, Harley ME, Jackson A, Losekoot M, van Duyvenvoorde HA. Joustra SD, et al. Horm Res Paediatr. 2024 Jun 5. doi: 10.1159/000539696. Online ahead of print. Horm Res Paediatr. 2024. PMID: 38838658
Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome.
Maharaj AV, Cottrell E, Thanasupawat T, Joustra SD, Triggs-Raine B, Fujimoto M, Kant SG, van der Kaay D, Clement-de Boers A, Brooks AS, Aguirre GA, Martín Del Estal I, Castilla de Cortázar Larrea MI, Massoud A, van Duyvenvoorde HA, De Bruin C, Hwa V, Klonisch T, Hombach-Klonisch S, Storr HL. Maharaj AV, et al. Among authors: joustra sd. JCI Insight. 2024 Feb 20;9(6):e169425. doi: 10.1172/jci.insight.169425. JCI Insight. 2024. PMID: 38516887 Free PMC article.
A Novel Pathogenic IGSF1 Variant in a Patient with GH and TSH Deficiency Diagnosed by High IGF-I Values at Transition to Adult Care.
Kardelen AD, Karakılıç Özturan E, Poyrazoğlu Ş, Baş F, Ceylaner S, Joustra SD, Wit JM, Darendeliler F. Kardelen AD, et al. Among authors: joustra sd. J Clin Res Pediatr Endocrinol. 2023 Nov 22;15(4):431-437. doi: 10.4274/jcrpe.galenos.2022.2021-12-3. Epub 2022 Apr 25. J Clin Res Pediatr Endocrinol. 2023. PMID: 35466665 Free PMC article.
Ways to Improve the Diagnosis of Growth Hormone Deficiency.
Wit JM, Vliegenthart J, Joustra SD, de Bruin C, Bakker B, van der Kaay DCM, Bocca G. Wit JM, et al. Among authors: joustra sd. Horm Res Paediatr. 2022;95(1):93-96. doi: 10.1159/000522541. Epub 2022 Feb 10. Horm Res Paediatr. 2022. PMID: 35144257 Free article. No abstract available.
34 results