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Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.
van der Crabben SN, Harakalova M, Brilstra EH, van Berkestijn FM, Hofstede FC, van Vught AJ, Cuppen E, Kloosterman W, Ploos van Amstel HK, van Haaften G, van Haelst MM. van der Crabben SN, et al. Among authors: van haelst mm, van haaften g, van berkestijn fm, van vught aj. Am J Med Genet A. 2014 Jan;164A(1):29-35. doi: 10.1002/ajmg.a.36184. Epub 2013 Nov 20. Am J Med Genet A. 2014. PMID: 24259184 Review.
An update on serine deficiency disorders.
van der Crabben SN, Verhoeven-Duif NM, Brilstra EH, Van Maldergem L, Coskun T, Rubio-Gozalbo E, Berger R, de Koning TJ. van der Crabben SN, et al. Among authors: van maldergem l. J Inherit Metab Dis. 2013 Jul;36(4):613-9. doi: 10.1007/s10545-013-9592-4. Epub 2013 Mar 6. J Inherit Metab Dis. 2013. PMID: 23463425
Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions.
Renkema GH, Visser G, Baertling F, Wintjes LT, Wolters VM, van Montfrans J, de Kort GAP, Nikkels PGJ, van Hasselt PM, van der Crabben SN, Rodenburg RJT. Renkema GH, et al. Among authors: van der crabben sn, van hasselt pm, van montfrans j. Hum Genet. 2017 Jun;136(6):759-769. doi: 10.1007/s00439-017-1794-7. Epub 2017 Apr 6. Hum Genet. 2017. PMID: 28386624 Free PMC article.
Aminoacyl-tRNA synthetase deficiencies in search of common themes.
Fuchs SA, Schene IF, Kok G, Jansen JM, Nikkels PGJ, van Gassen KLI, Terheggen-Lagro SWJ, van der Crabben SN, Hoeks SE, Niers LEM, Wolf NI, de Vries MC, Koolen DA, Houwen RHJ, Mulder MF, van Hasselt PM. Fuchs SA, et al. Among authors: van der crabben sn, van hasselt pm, van gassen kli. Genet Med. 2019 Feb;21(2):319-330. doi: 10.1038/s41436-018-0048-y. Epub 2018 Jun 6. Genet Med. 2019. PMID: 29875423 Free PMC article.
Adult GAMT deficiency: A literature review and report of two siblings.
Modi BP, Khan HN, van der Lee R, Wasim M, Haaxma CA, Richmond PA, Drögemöller B, Shah S, Salomons G, van der Kloet FM, Vaz FM, van der Crabben SN, Ross CJ, Wasserman WW, van Karnebeek CDM, Awan FR. Modi BP, et al. Among authors: van der crabben sn, van karnebeek cdm, van der kloet fm, van der lee r. Mol Genet Metab Rep. 2021 Apr 26;27:100761. doi: 10.1016/j.ymgmr.2021.100761. eCollection 2021 Jun. Mol Genet Metab Rep. 2021. PMID: 33996490 Free PMC article.
Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines.
Hitzert MM, van der Crabben SN, Baldewsingh G, van Amstel HKP, van den Wijngaard A, van Ravenswaaij-Arts CMA, Zijlmans CWR. Hitzert MM, et al. Among authors: van der crabben sn, van ravenswaaij arts cma, van amstel hkp, van den wijngaard a. Orphanet J Rare Dis. 2019 Dec 19;14(1):294. doi: 10.1186/s13023-019-1269-0. Orphanet J Rare Dis. 2019. PMID: 31856865 Free PMC article.
A mild case of sodium-dependent multivitamin transporter (SMVT) deficiency illustrating the importance of treatment response in variant classification.
Hauth I, Waterham HR, Wanders RJA, van der Crabben SN, van Karnebeek CDM. Hauth I, et al. Among authors: van der crabben sn, van karnebeek cdm. Cold Spring Harb Mol Case Stud. 2022 Mar 24;8(2):a006185. doi: 10.1101/mcs.a006185. Print 2022 Feb. Cold Spring Harb Mol Case Stud. 2022. PMID: 35217562 Free PMC article.
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.
Wortmann SB, Oud MM, Alders M, Coene KLM, van der Crabben SN, Feichtinger RG, Garanto A, Hoischen A, Langeveld M, Lefeber D, Mayr JA, Ockeloen CW, Prokisch H, Rodenburg R, Waterham HR, Wevers RA, van de Warrenburg BPC, Willemsen MAAP, Wolf NI, Vissers LELM, van Karnebeek CDM. Wortmann SB, et al. Among authors: van der crabben sn, van karnebeek cdm, van de warrenburg bpc. J Inherit Metab Dis. 2022 Jul;45(4):663-681. doi: 10.1002/jimd.12507. Epub 2022 May 22. J Inherit Metab Dis. 2022. PMID: 35506430 Free PMC article. Review.
Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study.
Crefcoeur L, Ferdinandusse S, van der Crabben SN, Dekkers E, Fuchs SA, Huidekoper H, Janssen M, Langendonk J, Maase R, de Sain M, Rubio E, van Spronsen FJ, Vaz FM, Verschoof R, de Vries M, Wijburg F, Visser G, Langeveld M. Crefcoeur L, et al. Among authors: van der crabben sn, van spronsen fj. J Med Genet. 2023 Nov 27;60(12):1177-1185. doi: 10.1136/jmg-2023-109206. J Med Genet. 2023. PMID: 37487700 Free PMC article.
59 results