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Page 1
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Johannesen KM, Liu Y, Koko M, Gjerulfsen CE, Sonnenberg L, Schubert J, Fenger CD, Eltokhi A, Rannap M, Koch NA, Lauxmann S, Krüger J, Kegele J, Canafoglia L, Franceschetti S, Mayer T, Rebstock J, Zacher P, Ruf S, Alber M, Sterbova K, Lassuthová P, Vlckova M, Lemke JR, Platzer K, Krey I, Heine C, Wieczorek D, Kroell-Seger J, Lund C, Klein KM, Au PYB, Rho JM, Ho AW, Masnada S, Veggiotti P, Giordano L, Accorsi P, Hoei-Hansen CE, Striano P, Zara F, Verhelst H, Verhoeven JS, Braakman HMH, van der Zwaag B, Harder AVE, Brilstra E, Pendziwiat M, Lebon S, Vaccarezza M, Le NM, Christensen J, Grønborg S, Scherer SW, Howe J, Fazeli W, Howell KB, Leventer R, Stutterd C, Walsh S, Gerard M, Gerard B, Matricardi S, Bonardi CM, Sartori S, Berger A, Hoffman-Zacharska D, Mastrangelo M, Darra F, Vøllo A, Motazacker MM, Lakeman P, Nizon M, Betzler C, Altuzarra C, Caume R, Roubertie A, Gélisse P, Marini C, Guerrini R, Bilan F, Tibussek D, Koch-Hogrebe M, Perry MS, Ichikawa S, Dadali E, Sharkov A, Mishina I, Abramov M, Kanivets I, Korostelev S, Kutsev S, Wain KE, Eisenhauer N, Wagner M, Savatt JM, Müller-Schlüter K, Bassan H, Borovikov A, Nassogne MC, Destrée A, Schoonjans AS, Meuwissen M, Buzatu… See abstract for full author list ➔ Johannesen KM, et al. Among authors: van der zwaag b. Brain. 2022 Sep 14;145(9):2991-3009. doi: 10.1093/brain/awab321. Brain. 2022. PMID: 34431999 Free PMC article.
Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism.
van Daalen E, Kemner C, Verbeek NE, van der Zwaag B, Dijkhuizen T, Rump P, Houben R, van 't Slot R, de Jonge MV, Staal WG, Beemer FA, Vorstman JA, Burbach JP, van Amstel HK, Hochstenbach R, Brilstra EH, Poot M. van Daalen E, et al. Among authors: van t slot r, van amstel hk, van der zwaag b. Neurogenetics. 2011 Nov;12(4):315-23. doi: 10.1007/s10048-011-0297-2. Epub 2011 Aug 12. Neurogenetics. 2011. PMID: 21837366 Free PMC article.
The Complexity of Genotype-Phenotype Correlations in Hereditary Spherocytosis: A Cohort of 95 Patients: Genotype-Phenotype Correlation in Hereditary Spherocytosis.
van Vuren A, van der Zwaag B, Huisjes R, Lak N, Bierings M, Gerritsen E, van Beers E, Bartels M, van Wijk R. van Vuren A, et al. Among authors: van beers e, van wijk r, van der zwaag b. Hemasphere. 2019 Aug 7;3(4):e276. doi: 10.1097/HS9.0000000000000276. eCollection 2019 Aug. Hemasphere. 2019. PMID: 31723846 Free PMC article.
Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center.
Kleinendorst L, Abawi O, van der Voorn B, Jongejan MHTM, Brandsma AE, Visser JA, van Rossum EFC, van der Zwaag B, Alders M, Boon EMJ, van Haelst MM, van den Akker ELT. Kleinendorst L, et al. Among authors: van rossum efc, van haelst mm, van der zwaag b, van den akker elt, van der voorn b. PLoS One. 2020 May 8;15(5):e0232990. doi: 10.1371/journal.pone.0232990. eCollection 2020. PLoS One. 2020. PMID: 32384097 Free PMC article.
Sequence analysis of the PLEXIN-D1 gene in Möbius syndrome patients.
van der Zwaag B, Verzijl HT, Wichers KH, Beltran-Valero de Bernabe D, Brunner HG, van Bokhoven H, Padberg GW. van der Zwaag B, et al. Among authors: van bokhoven h. Pediatr Neurol. 2004 Aug;31(2):114-8. doi: 10.1016/j.pediatrneurol.2004.02.004. Pediatr Neurol. 2004. PMID: 15301830
Copy-number variation in sporadic amyotrophic lateral sclerosis: a genome-wide screen.
Blauw HM, Veldink JH, van Es MA, van Vught PW, Saris CG, van der Zwaag B, Franke L, Burbach JP, Wokke JH, Ophoff RA, van den Berg LH. Blauw HM, et al. Among authors: van es ma, van den berg lh, van der zwaag b, van vught pw. Lancet Neurol. 2008 Apr;7(4):319-26. doi: 10.1016/S1474-4422(08)70048-6. Epub 2008 Mar 3. Lancet Neurol. 2008. PMID: 18313986
Gene-network analysis identifies susceptibility genes related to glycobiology in autism.
van der Zwaag B, Franke L, Poot M, Hochstenbach R, Spierenburg HA, Vorstman JA, van Daalen E, de Jonge MV, Verbeek NE, Brilstra EH, van 't Slot R, Ophoff RA, van Es MA, Blauw HM, Veldink JH, Buizer-Voskamp JE, Beemer FA, van den Berg LH, Wijmenga C, van Amstel HK, van Engeland H, Burbach JP, Staal WG. van der Zwaag B, et al. Among authors: van t slot r, van es ma, van engeland h, van amstel hk, van den berg lh, van daalen e. PLoS One. 2009 May 28;4(5):e5324. doi: 10.1371/journal.pone.0005324. PLoS One. 2009. PMID: 19492091 Free PMC article.
A novel mutation of laminin β2 (LAMB2) in two siblings with renal failure.
Falix FA, Bennebroek CA, van der Zwaag B, Lapid-Gortzak R, Florquin S, Oosterveld MJ. Falix FA, et al. Among authors: van der zwaag b. Eur J Pediatr. 2017 Apr;176(4):515-519. doi: 10.1007/s00431-017-2871-6. Epub 2017 Feb 10. Eur J Pediatr. 2017. PMID: 28188379 Free PMC article.
77 results