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Page 1
Bi-allelic NIT1 variants cause a brain small vessel disease characterized by movement disorders, massively dilated perivascular spaces, and intracerebral hemorrhage.
Rutten JW, Cerfontaine MN, Dijkstra KL, Mulder AA, Vreijling J, Kruit M, Koning RI, de Bot ST, van Nieuwenhuizen KM, Baelde HJ, Berendse HW, Mei LH, Ruijter GJG, Baas F, Jost CR, van Duinen SG, Nibbeling EAR, Gravesteijn G, Lesnik Oberstein SAJ. Rutten JW, et al. Among authors: nibbeling ear. Genet Med. 2024 Feb 27;26(6):101105. doi: 10.1016/j.gim.2024.101105. Online ahead of print. Genet Med. 2024. PMID: 38430071 Free article.
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.
Bosch E, Popp B, Güse E, Skinner C, van der Sluijs PJ, Maystadt I, Pinto AM, Renieri A, Bruno LP, Granata S, Marcelis C, Baysal Ö, Hartwich D, Holthöfer L, Isidor B, Cogne B, Wieczorek D, Capra V, Scala M, De Marco P, Ognibene M, Jamra RA, Platzer K, Carter LB, Kuismin O, van Haeringen A, Maroofian R, Valenzuela I, Cuscó I, Martinez-Agosto JA, Rabani AM, Mefford HC, Pereira EM, Close C, Anyane-Yeboa K, Wagner M, Hannibal MC, Zacher P, Thiffault I, Beunders G, Umair M, Bhola PT, McGinnis E, Millichap J, van de Kamp JM, Prijoles EJ, Dobson A, Shillington A, Graham BH, Garcia EJ, Galindo MK, Ropers FG, Nibbeling EAR, Hubbard G, Karimov C, Goj G, Bend R, Rath J, Morrow MM, Millan F, Salpietro V, Torella A, Nigro V, Kurki M, Stevenson RE, Santen GWE, Zweier M, Campeau PM, Severino M, Reis A, Accogli A, Vasileiou G. Bosch E, et al. Among authors: nibbeling ear. Genet Med. 2023 Nov;25(11):100950. doi: 10.1016/j.gim.2023.100950. Epub 2023 Aug 5. Genet Med. 2023. PMID: 37551667 Free article.
Sacral abnormalities including caudal appendage, skeletal dysplasia, and prenatal cardiomyopathy associated with a pathogenic TAB2 variant in a 3-generation family.
Koene S, Klerx-Melis F, Roest AAW, Kleijwegt MC, Bootsma M, Haak MC, van Haeringen MH, Ruivenkamp CAL, Nibbeling EAR, van Haeringen A. Koene S, et al. Among authors: nibbeling ear. Am J Med Genet A. 2022 Dec;188(12):3510-3515. doi: 10.1002/ajmg.a.62929. Epub 2022 Aug 24. Am J Med Genet A. 2022. PMID: 36000780 Free PMC article.
Diagnostic Value of a Protocolized In-Depth Evaluation of Pediatric Bone Marrow Failure: A Multi-Center Prospective Cohort Study.
Atmar K, Ruivenkamp CAL, Hooimeijer L, Nibbeling EAR, Eckhardt CL, Huisman EJ, Lankester AC, Bartels M, Santen GWE, Smiers FJ, van der Burg M, Mohseny AB. Atmar K, et al. Among authors: nibbeling ear. Front Immunol. 2022 Apr 27;13:883826. doi: 10.3389/fimmu.2022.883826. eCollection 2022. Front Immunol. 2022. PMID: 35572556 Free PMC article.
Prenatal exome sequencing: A useful tool for the fetal neurologist.
de Koning MA, Hoffer MJV, Nibbeling EAR, Bijlsma EK, Toirkens MJP, Adama-Scheltema PN, Verweij EJ, Veenhof MB, Santen GWE, Peeters-Scholte CMPCD. de Koning MA, et al. Among authors: nibbeling ear. Clin Genet. 2022 Jan;101(1):65-77. doi: 10.1111/cge.14070. Epub 2021 Oct 19. Clin Genet. 2022. PMID: 34611884 Free PMC article.
Rare functional missense variants in CACNA1H: What can we learn from Writer's cramp?
Huang M, Nibbeling EAR, Lagrand TJ, Souza IA, Groen JL, Gandini MA, Zhang FX, Koelman JHTM, Adir N, Sinke RJ, Zamponi GW, Tijssen MAJ, Verbeek DS. Huang M, et al. Among authors: nibbeling ear. Mol Brain. 2021 Jan 21;14(1):18. doi: 10.1186/s13041-021-00736-3. Mol Brain. 2021. PMID: 33478561 Free PMC article.
From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care.
de Koning MA, Haak MC, Adama van Scheltema PN, Peeters-Scholte CMPCD, Koopmann TT, Nibbeling EAR, Aten E, den Hollander NS, Ruivenkamp CAL, Hoffer MJV, Santen GWE. de Koning MA, et al. Among authors: nibbeling ear. Genet Med. 2019 Oct;21(10):2303-2310. doi: 10.1038/s41436-019-0499-9. Epub 2019 Mar 28. Genet Med. 2019. PMID: 30918357 Free article.
Correction: Putting genome-wide sequencing in neonates into perspective.
van der Sluijs PJ, Aten E, Barge-Schaapveld DQCM, Bijlsma EK, Bökenkamp-Gramann R, Kaat LD, van Doorn R, van de Putte DF, van Haeringen A, Ten Harkel ADJ, Hilhorst-Hofstee Y, Hoffer MJV, den Hollander NS, van Ierland Y, Koopmans M, Kriek M, Moghadasi S, Nibbeling EAR, Peeters-Scholte CMPCD, Potjer TP, van Rij M, Ruivenkamp CAL, Rutten JW, Steggerda SJ, Suerink M, Tan RNGB, van der Tuin K, Visser R, van der Werf-'t Lam AS, Williams M, Witlox R, Santen GWE. van der Sluijs PJ, et al. Among authors: nibbeling ear. Genet Med. 2019 Sep;21(9):2159-2164. doi: 10.1038/s41436-018-0363-3. Genet Med. 2019. PMID: 30464259 Free article.
Putting genome-wide sequencing in neonates into perspective.
van der Sluijs PJ, Aten E, Barge-Schaapveld DQCM, Bijlsma EK, Bökenkamp-Gramann R, Donker Kaat L, van Doorn R, van de Putte DF, van Haeringen A, Ten Harkel ADJ, Hilhorst-Hofstee Y, Hoffer MJV, den Hollander NS, van Ierland Y, Koopmans M, Kriek M, Moghadasi S, Nibbeling EAR, Peeters-Scholte CMPCD, Potjer TP, van Rij M, Ruivenkamp CAL, Rutten JW, Steggerda SJ, Suerink M, Tan RNGB, van der Tuin K, Visser R, van der Werf-'t Lam AS, Williams M, Witlox R, Santen GWE. van der Sluijs PJ, et al. Among authors: nibbeling ear. Genet Med. 2019 May;21(5):1074-1082. doi: 10.1038/s41436-018-0293-0. Epub 2018 Oct 5. Genet Med. 2019. PMID: 30287924 Free article.
14 results