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Journal Abstract Search

271 related items for PubMed ID: 31125459

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  • 10. 17q21.31 microdeletion syndrome: Description of a case further contributing to the delineation of Koolen-de Vries syndrome.
    Bernardo P, Madia F, Santulli L, Del Gaudio L, Caccavale C, Zara F, Traverso M, Cirillo M, Striano S, Coppola A.
    Brain Dev; 2016 Aug; 38(7):663-8. PubMed ID: 26897099
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  • 11. The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients.
    Myers KA, Mandelstam SA, Ramantani G, Rushing EJ, de Vries BB, Koolen DA, Scheffer IE.
    Epilepsia; 2017 Jun; 58(6):1085-1094. PubMed ID: 28440867
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  • 12. Anesthesia management for a child with the Koolen-de Vries syndrome: a case report.
    Zhao Y, Zuo Y.
    BMC Anesthesiol; 2024 Apr 13; 24(1):143. PubMed ID: 38614993
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  • 13. Café-au-lait Macules and Neurofibromatosis Type 1: A Review of the Literature.
    Bernier A, Larbrisseau A, Perreault S.
    Pediatr Neurol; 2016 Jul 13; 60():24-29.e1. PubMed ID: 27212418
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  • 15. Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome.
    Dingemans AJM, Stremmelaar DE, van der Donk R, Vissers LELM, Koolen DA, Rump P, Hehir-Kwa JY, de Vries BBA.
    Eur J Hum Genet; 2021 Sep 13; 29(9):1418-1423. PubMed ID: 33603161
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  • 18. Koebner Phenomenon: Café-au-Lait Spots Developing after a Secondary-Degree Burn in a Patient with Neurofibromatosis Type 1.
    Feily A, Niaz MJ, Fort M, Morales-Cruz M, Niaz MO, Lange CS, Ramirez-Fort MK.
    Skinmed; 2022 Sep 13; 20(1):72-74. PubMed ID: 35435830
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  • 19. Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition.
    Arbogast T, Iacono G, Chevalier C, Afinowi NO, Houbaert X, van Eede MC, Laliberte C, Birling MC, Linda K, Meziane H, Selloum M, Sorg T, Nadif Kasri N, Koolen DA, Stunnenberg HG, Henkelman RM, Kopanitsa M, Humeau Y, De Vries BBA, Herault Y.
    PLoS Genet; 2017 Jul 13; 13(7):e1006886. PubMed ID: 28704368
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  • 20. Neurofibromatosis type 1 with overlap Turner syndrome and Klinefelter syndrome.
    Hatipoglu N, Kurtoglu S, Kendirci M, Keskin M, Per H.
    J Trop Pediatr; 2010 Feb 13; 56(1):69-72. PubMed ID: 19578129
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