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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: van haeringen a. 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.
Chorionic villus sampling and end-artery disruption of the fetus.
Luijsterburg AJ, van der Zee DC, Gaillard JL, Los FJ, Brandenburg H, van Haeringen A, Vermeij-Keers C. Luijsterburg AJ, et al. Among authors: van der zee dc, van haeringen a. Prenat Diagn. 1997 Jan;17(1):71-6. doi: 10.1002/(sici)1097-0223(199701)17:1<71::aid-pd21>3.0.co;2-j. Prenat Diagn. 1997. PMID: 9021831
Paradox of a better test for Huntington's disease.
Maat-Kievit A, Vegter-van der Vlis M, Zoeteweij M, Losekoot M, van Haeringen A, Roos R. Maat-Kievit A, et al. Among authors: van haeringen a. J Neurol Neurosurg Psychiatry. 2000 Nov;69(5):579-83. doi: 10.1136/jnnp.69.5.579. J Neurol Neurosurg Psychiatry. 2000. PMID: 11032607 Free PMC article.
Severe cardiac defect in a patient with the OEIS complex.
Kant SG, Bartelings MM, Kibbelaar RE, Van Haeringen A. Kant SG, et al. Among authors: van haeringen a. Clin Dysmorphol. 1997 Oct;6(4):371-4. doi: 10.1097/00019605-199710000-00012. Clin Dysmorphol. 1997. PMID: 9354848
Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms.
Kloosterman WP, Tavakoli-Yaraki M, van Roosmalen MJ, van Binsbergen E, Renkens I, Duran K, Ballarati L, Vergult S, Giardino D, Hansson K, Ruivenkamp CA, Jager M, van Haeringen A, Ippel EF, Haaf T, Passarge E, Hochstenbach R, Menten B, Larizza L, Guryev V, Poot M, Cuppen E. Kloosterman WP, et al. Among authors: van haeringen a, van roosmalen mj, van binsbergen e. Cell Rep. 2012 Jun 28;1(6):648-55. doi: 10.1016/j.celrep.2012.05.009. Epub 2012 Jun 15. Cell Rep. 2012. PMID: 22813740 Free article.
Fetal dystrophin to diagnose carrier status.
Ginjaar IB, Soffers S, Moorman AF, Nicholson LV, Morris GE, Bakker E, van Haeringen A, van Ommen GJ. Ginjaar IB, et al. Among authors: van haeringen a, van ommen gj. Lancet. 1991 Jul 27;338(8761):258-9. doi: 10.1016/0140-6736(91)90402-b. Lancet. 1991. PMID: 1676813 No abstract available.
125 results