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Year Number of Results
2012 2
2013 1
2014 1
2015 3
2016 1
2017 2
2018 2
2019 5
2020 1
2021 1
2022 3
2023 5
2024 2

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24 results

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Page 1
A Dutch paediatric palliative care guideline: a systematic review and evidence-based recommendations for symptom treatment.
van Teunenbroek KC, Mulder RL, Ahout IML, Bindels-de Heus KGCB, Delsman-van Gelder CM, Galimont-Collen AFS, de Groot MAR, Heitink-Polle KMJ, Looijestijn J, Mensink MO, Mulder S, Schieving JH, Schouten-van Meeteren AYN, Verheijden JMA, Rippen H, Borggreve BCM, Kremer LCM, Verhagen AAE, Michiels EMC; working groups symptom treatment and refractory symptom treatment of the Dutch paediatric palliative care guideline. van Teunenbroek KC, et al. Among authors: schieving jh. BMC Palliat Care. 2024 Mar 13;23(1):72. doi: 10.1186/s12904-024-01367-w. BMC Palliat Care. 2024. PMID: 38481215 Free PMC article.
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.
Gehin C, Lone MA, Lee W, Capolupo L, Ho S, Adeyemi AM, Gerkes EH, Stegmann AP, López-Martín E, Bermejo-Sánchez E, Martínez-Delgado B, Zweier C, Kraus C, Popp B, Strehlow V, Gräfe D, Knerr I, Jones ER, Zamuner S, Abriata LA, Kunnathully V, Moeller BE, Vocat A, Rommelaere S, Bocquete JP, Ruchti E, Limoni G, Van Campenhoudt M, Bourgeat S, Henklein P, Gilissen C, van Bon BW, Pfundt R, Willemsen MH, Schieving JH, Leonardi E, Soli F, Murgia A, Guo H, Zhang Q, Xia K, Fagerberg CR, Beier CP, Larsen MJ, Valenzuela I, Fernández-Álvarez P, Xiong S, Śmigiel R, López-González V, Armengol L, Morleo M, Selicorni A, Torella A, Blyth M, Cooper NS, Wilson V, Oegema R, Herenger Y, Garde A, Bruel AL, Tran Mau-Them F, Maddocks AB, Bain JM, Bhat MA, Costain G, Kannu P, Marwaha A, Champaigne NL, Friez MJ, Richardson EB, Gowda VK, Srinivasan VM, Gupta Y, Lim TY, Sanna-Cherchi S, Lemaitre B, Yamaji T, Hanada K, Burke JE, Jakšić AM, McCabe BD, De Los Rios P, Hornemann T, D'Angelo G, Gennarino VA. Gehin C, et al. Among authors: schieving jh. J Clin Invest. 2023 May 15;133(10):e165019. doi: 10.1172/JCI165019. J Clin Invest. 2023. PMID: 36976648 Free PMC article.
Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests.
Ferreira EA, Veenvliet ARJ, Engelke UFH, Kluijtmans LAJ, Huigen MCDG, Hoegen B, de Boer L, de Vries MC, van Bon BW, Leenders E, Cornelissen EAM, Haaxma CA, Schieving JH, Rubio-Gozalbo ME, Körver-Keularts IMLW, Marten LM, Diegmann S, Mourmans J, Rennings AJM, van Karnebeek CDM, Rodenburg RJ, Coene KLM. Ferreira EA, et al. Among authors: schieving jh. Genet Med. 2023 Jan;25(1):125-134. doi: 10.1016/j.gim.2022.10.002. Epub 2022 Nov 9. Genet Med. 2023. PMID: 36350326 Free article.
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.
Schobers G, Schieving JH, Yntema HG, Pennings M, Pfundt R, Derks R, Hofste T, de Wijs I, Wieskamp N, van den Heuvel S, Galbany JC, Gilissen C, Nelen M, Brunner HG, Kleefstra T, Kamsteeg EJ, Willemsen MAAP, Vissers LELM. Schobers G, et al. Among authors: schieving jh. Genome Med. 2022 Jun 17;14(1):66. doi: 10.1186/s13073-022-01069-z. Genome Med. 2022. PMID: 35710456 Free PMC article.
Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring.
Nagy D, Verheyen S, Wigby KM, Borovikov A, Sharkov A, Slegesky V, Larson A, Fagerberg C, Brasch-Andersen C, Kibæk M, Bader I, Hernan R, High FA, Chung WK, Schieving JH, Behunova J, Smogavec M, Laccone F, Witsch-Baumgartner M, Zobel J, Duba HC, Weis D. Nagy D, et al. Among authors: schieving jh. Genes (Basel). 2022 Jan 15;13(1):154. doi: 10.3390/genes13010154. Genes (Basel). 2022. PMID: 35052493 Free PMC article.
KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia.
Pennings M, Schouten MI, van Gaalen J, Meijer RPP, de Bot ST, Kriek M, Saris CGJ, van den Berg LH, van Es MA, Zuidgeest DMH, Elting MW, van de Kamp JM, van Spaendonck-Zwarts KY, Die-Smulders C, Brilstra EH, Verschuuren CC, de Vries BBA, Bruijn J, Sofou K, Duijkers FA, Jaeger B, Schieving JH, van de Warrenburg BP, Kamsteeg EJ. Pennings M, et al. Among authors: schieving jh. Eur J Hum Genet. 2020 Jan;28(1):40-49. doi: 10.1038/s41431-019-0497-z. Epub 2019 Sep 5. Eur J Hum Genet. 2020. PMID: 31488895 Free PMC article.
24 results