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2006 1
2019 1
2020 5
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2022 7
2023 7
2024 6

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Page 1
Diagnosis and Management of Central Congenital Hypothyroidism.
Lauffer P, Zwaveling-Soonawala N, Naafs JC, Boelen A, van Trotsenburg ASP. Lauffer P, et al. Front Endocrinol (Lausanne). 2021 Sep 9;12:686317. doi: 10.3389/fendo.2021.686317. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34566885 Free PMC article. Review.
DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder.
Rooney K, van der Laan L, Trajkova S, Haghshenas S, Relator R, Lauffer P, Vos N, Levy MA, Brunetti-Pierri N, Terrone G, Mignot C, Keren B, de Villemeur TB, Volker-Touw CML, Verbeek N, van der Smagt JJ, Oegema R, Brusco A, Ferrero GB, Misra-Isrie M, Hochstenbach R, Alders M, Mannens MMAM, Sadikovic B, van Haelst MM, Henneman P. Rooney K, et al. Among authors: lauffer p. Genet Med. 2023 Aug;25(8):100871. doi: 10.1016/j.gim.2023.100871. Epub 2023 Apr 28. Genet Med. 2023. PMID: 37120726 Free article.
Reforming the male Tanner genital scale.
Lauffer P, Mooij CF, Zwaveling-Soonawala N, van Trotsenburg ASP. Lauffer P, et al. J Pediatr Endocrinol Metab. 2020 Mar 26;33(3):425-426. doi: 10.1515/jpem-2019-0501. J Pediatr Endocrinol Metab. 2020. PMID: 32049655 Free article. No abstract available.
Episignature Mapping of TRIP12 Provides Functional Insight into Clark-Baraitser Syndrome.
van der Laan L, Rooney K, Alders M, Relator R, McConkey H, Kerkhof J, Levy MA, Lauffer P, Aerden M, Theunis M, Legius E, Tedder ML, Vissers LELM, Koene S, Ruivenkamp C, Hoffer MJV, Wieczorek D, Bramswig NC, Herget T, González VL, Santos-Simarro F, Tørring PM, Denomme-Pichon AS, Isidor B, Keren B, Julia S, Schaefer E, Francannet C, Maillard PY, Misra-Isrie M, Van Esch H, Mannens MMAM, Sadikovic B, van Haelst MM, Henneman P. van der Laan L, et al. Among authors: lauffer p. Int J Mol Sci. 2022 Nov 8;23(22):13664. doi: 10.3390/ijms232213664. Int J Mol Sci. 2022. PMID: 36430143 Free PMC article.
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.
Haghshenas S, Bout HJ, Schijns JM, Levy MA, Kerkhof J, Bhai P, McConkey H, Jenkins ZA, Williams EM, Halliday BJ, Huisman SA, Lauffer P, de Waard V, Witteveen L, Banka S, Brady AF, Galazzi E, van Gils J, Hurst ACE, Kaiser FJ, Lacombe D, Martinez-Monseny AF, Fergelot P, Monteiro FP, Parenti I, Persani L, Santos-Simarro F, Simpson BN; MKHK Research Consortium; Alders M, Robertson SP, Sadikovic B, Menke LA. Haghshenas S, et al. Among authors: lauffer p. HGG Adv. 2024 Mar 29;5(3):100287. doi: 10.1016/j.xhgg.2024.100287. Online ahead of print. HGG Adv. 2024. PMID: 38553851 Free PMC article.
Towards a Rational and Efficient Diagnostic Approach in Children Referred for Tall Stature and/or Accelerated Growth to the General Paediatrician.
Lauffer P, Kamp GA, Menke LA, Wit JM, Oostdijk W; on behalf of the Dutch Working Group on Triage and Diagnosis of Growth Disorders in Children. Lauffer P, et al. Horm Res Paediatr. 2019;91(5):293-310. doi: 10.1159/000500810. Epub 2019 Jul 12. Horm Res Paediatr. 2019. PMID: 31302655 Free article. Review.
26 results