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Page 1
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations.
van Woerden GM, Senden R, de Konink C, Trezza RA, Baban A, Bassetti JA, van Bever Y, Bird LM, van Bon BW, Brooks AS, Guan Q, Klee EW, Marcelis C, Rosado JM, Schimmenti LA, Shikany AR, Terhal PA, Nicole Weaver K, Wessels MW, van Wieringen H, Hurst AC, Gooch CF, Steindl K, Joset P, Rauch A, Tartaglia M, Niceta M, Elgersma Y, Demirdas S. van Woerden GM, et al. Among authors: van wieringen h. Hum Mutat. 2022 Oct;43(10):1377-1395. doi: 10.1002/humu.24425. Epub 2022 Jul 29. Hum Mutat. 2022. PMID: 35730652 Free PMC article.
KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16.
Parrock S, Hussain S, Issler N, Differ AM, Lench N, Guarino S, Oosterveld MJ, Keijzer-Veen M, Brilstra E, van Wieringen H, Konijnenberg AY, Amin-Rasip S, Dumitriu S, Klootwijk E, Knoers N, Bockenhauer D, Kleta R, Zdebik AA. Parrock S, et al. Among authors: van wieringen h. Nephron Physiol. 2013;123(3-4):7-14. doi: 10.1159/000356353. Epub 2013 Nov 2. Nephron Physiol. 2013. PMID: 24193250 Free article.
Neonatal mortality and morbidity in Down syndrome in the time of prenatal aneuploidy testing: a retrospective cohort study.
de Groot-van der Mooren MD, Scheerman BC, Rammeloo LAJ, van Wieringen H, van Wermeskerken AM, van der Plas R, de Winter P, Weijerman ME, Cornel MC, van Kaam AH. de Groot-van der Mooren MD, et al. Among authors: van wieringen h. Eur J Pediatr. 2023 Jan;182(1):319-328. doi: 10.1007/s00431-022-04686-3. Epub 2022 Nov 9. Eur J Pediatr. 2023. PMID: 36350406 Free PMC article.
Bone mineral density in children and adolescents with Prader-Willi syndrome: a longitudinal study during puberty and 9 years of growth hormone treatment.
Bakker NE, Kuppens RJ, Siemensma EP, Tummers-de Lind van Wijngaarden RF, Festen DA, Bindels-de Heus GC, Bocca G, Haring DA, Hoorweg-Nijman JJ, Houdijk EC, Jira PE, Lunshof L, Odink RJ, Oostdijk W, Rotteveel J, Van Alfen AA, Van Leeuwen M, Van Wieringen H, Wegdam-den Boer ME, Zwaveling-Soonawala N, Hokken-Koelega AC. Bakker NE, et al. Among authors: van wieringen h. J Clin Endocrinol Metab. 2015 Apr;100(4):1609-18. doi: 10.1210/jc.2014-4347. Epub 2015 Feb 10. J Clin Endocrinol Metab. 2015. PMID: 25668198 Clinical Trial.
Eight years of growth hormone treatment in children with Prader-Willi syndrome: maintaining the positive effects.
Bakker NE, Kuppens RJ, Siemensma EP, Tummers-de Lind van Wijngaarden RF, Festen DA, Bindels-de Heus GC, Bocca G, Haring DA, Hoorweg-Nijman JJ, Houdijk EC, Jira PE, Lunshof L, Odink RJ, Oostdijk W, Rotteveel J, Schroor EJ, Van Alfen AA, Van Leeuwen M, Van Pinxteren-Nagler E, Van Wieringen H, Vreuls RC, Zwaveling-Soonawala N, de Ridder MA, Hokken-Koelega AC. Bakker NE, et al. Among authors: van wieringen h. J Clin Endocrinol Metab. 2013 Oct;98(10):4013-22. doi: 10.1210/jc.2013-2012. Epub 2013 Sep 3. J Clin Endocrinol Metab. 2013. PMID: 24001750
Beneficial effects of growth hormone treatment on cognition in children with Prader-Willi syndrome: a randomized controlled trial and longitudinal study.
Siemensma EP, Tummers-de Lind van Wijngaarden RF, Festen DA, Troeman ZC, van Alfen-van der Velden AA, Otten BJ, Rotteveel J, Odink RJ, Bindels-de Heus GC, van Leeuwen M, Haring DA, Oostdijk W, Bocca G, Mieke Houdijk EC, van Trotsenburg AS, Hoorweg-Nijman JJ, van Wieringen H, Vreuls RC, Jira PE, Schroor EJ, van Pinxteren-Nagler E, Willem Pilon J, Lunshof LB, Hokken-Koelega AC. Siemensma EP, et al. Among authors: van wieringen h. J Clin Endocrinol Metab. 2012 Jul;97(7):2307-14. doi: 10.1210/jc.2012-1182. Epub 2012 Apr 16. J Clin Endocrinol Metab. 2012. PMID: 22508707 Free article. Clinical Trial.
[Diagnosis of fetal alcohol spectrum disorders].
van Wieringen H, Letteboer TG, Pereira RR, de Ruiter S, Balemans WA, Lindhout D. van Wieringen H, et al. Ned Tijdschr Geneeskd. 2010;154:A331. Ned Tijdschr Geneeskd. 2010. PMID: 20858301 Review. Dutch.
15 results