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Year Number of Results
2008 1
2012 2
2013 2
2014 3
2015 4
2016 2
2017 3
2018 2
2019 5
2020 1
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2023 5
2024 4

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31 results

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Page 1
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.
GRIN2A-related disorders: genotype and functional consequence predict phenotype.
Strehlow V, Heyne HO, Vlaskamp DRM, Marwick KFM, Rudolf G, de Bellescize J, Biskup S, Brilstra EH, Brouwer OF, Callenbach PMC, Hentschel J, Hirsch E, Kind PC, Mignot C, Platzer K, Rump P, Skehel PA, Wyllie DJA, Hardingham GE, van Ravenswaaij-Arts CMA, Lesca G, Lemke JR; GRIN2A study group. Strehlow V, et al. Brain. 2019 Jan 1;142(1):80-92. doi: 10.1093/brain/awy304. Brain. 2019. PMID: 30544257 Free PMC article.
Telangiectasias: Small lesions referring to serious disorders.
Schieving JH, Schoenaker MHD, Weemaes CM, van Deuren M, van der Flier M, Seyger MM, Willemsen MAAP. Schieving JH, et al. Eur J Paediatr Neurol. 2017 Nov;21(6):807-815. doi: 10.1016/j.ejpn.2017.07.016. Epub 2017 Jul 29. Eur J Paediatr Neurol. 2017. PMID: 28803159 Review.
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.
Alpha-fetoprotein, a fascinating protein and biomarker in neurology.
Schieving JH, de Vries M, van Vugt JM, Weemaes C, van Deuren M, Nicolai J, Wevers RA, Willemsen MA. Schieving JH, et al. Eur J Paediatr Neurol. 2014 May;18(3):243-8. doi: 10.1016/j.ejpn.2013.09.003. Epub 2013 Sep 29. Eur J Paediatr Neurol. 2014. PMID: 24120489 Review.
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.
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.
Mutations in RARS cause hypomyelination.
Wolf NI, Salomons GS, Rodenburg RJ, Pouwels PJ, Schieving JH, Derks TG, Fock JM, Rump P, van Beek DM, van der Knaap MS, Waisfisz Q. Wolf NI, et al. Among authors: schieving jh. Ann Neurol. 2014 Jul;76(1):134-9. doi: 10.1002/ana.24167. Epub 2014 May 16. Ann Neurol. 2014. PMID: 24777941
31 results