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Journal Abstract Search

135 related items for PubMed ID: 38614993

  • 21.
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  • 22. Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome.
    Amenta S, Frangella S, Marangi G, Lattante S, Ricciardi S, Doronzio PN, Orteschi D, Veredice C, Contaldo I, Zampino G, Gentile M, Scarano E, Graziano C, Zollino M.
    J Med Genet; 2022 Feb; 59(2):189-195. PubMed ID: 33361104
    [Abstract] [Full Text] [Related]

  • 23. Koolen-de Vries syndrome: A de novo missense KANSL1 variant.
    Yimenicioglu S, Kocaaga A.
    Clin Neurol Neurosurg; 2022 Nov; 222():107444. PubMed ID: 36150256
    [Abstract] [Full Text] [Related]

  • 24. Menkes disease complicated by concurrent Koolen-de Vries syndrome (17q21.31 deletion).
    Woodfin T, Stoops C, Philips JB, Lose E, Mikhail FM, Hurst A.
    Mol Genet Genomic Med; 2019 Aug; 7(8):e829. PubMed ID: 31250568
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  • 25.
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  • 26. Targeting impaired autophagy as a therapeutic strategy for Koolen-de Vries syndrome.
    Li T, Li A, Pan X.
    Autophagy; 2022 Dec; 18(12):3040-3042. PubMed ID: 35468045
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  • 27.
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  • 28.
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  • 29. Vitiligo in a 9-year-old girl with Koolen-de Vries syndrome.
    Lobo Y, Wheller L.
    Dermatol Online J; 2021 Apr 15; 27(4):. PubMed ID: 33999592
    [No Abstract] [Full Text] [Related]

  • 30.
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  • 31. [Koolen de Vries syndrome: A challenge in clinical practice].
    Moreno Samos M, Moreno Medinilla EE, Martínez Antón JL, Urda Cardona A.
    An Pediatr (Barc); 2017 Mar 15; 86(3):162-164. PubMed ID: 27436569
    [No Abstract] [Full Text] [Related]

  • 32. 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 15; 13(7):e1006886. PubMed ID: 28704368
    [Abstract] [Full Text] [Related]

  • 33. Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders.
    Linda K, Lewerissa EI, Verboven AHA, Gabriele M, Frega M, Klein Gunnewiek TM, Devilee L, Ulferts E, Hommersom M, Oudakker A, Schoenmaker C, van Bokhoven H, Schubert D, Testa G, Koolen DA, de Vries BBA, Nadif Kasri N.
    Autophagy; 2022 Feb 15; 18(2):423-442. PubMed ID: 34286667
    [Abstract] [Full Text] [Related]

  • 34. Novel antenatal presentation of cystic hygroma in a case of Koolen-de Vries syndrome.
    Oakley-Hannibal E, Tyagi V, Das S, Wakeling E, Gardham A.
    Clin Dysmorphol; 2022 Apr 01; 31(2):106-108. PubMed ID: 35045017
    [No Abstract] [Full Text] [Related]

  • 35. Prenatal ultrasound findings in Koolen-de Vries foetuses: Central nervous system anomalies are frequent markers of this syndrome.
    García-Santiago FA, Martínez-Payo C, Mansilla E, Santos-Simarro F, Ruiz de Azua Ballesteros M, Mori MÁ, Antolín Alvarado E, Nieto Y, Vallcorba I, Tenorio J, Nevado J, Lapunzina P.
    Mol Genet Genomic Med; 2021 May 01; 9(5):e1649. PubMed ID: 33733630
    [Abstract] [Full Text] [Related]

  • 36. The diagnosis of the first-documented intragenic KANSL1 microduplication patient broadens the genetic spectrum of Koolen de Vries syndrome.
    Martorell L, Yubero D, Capdevila EC, Fernández Isern G, Salinas D, Mari Vico R, Rebollo M, Muchart J, Armstrong J, Ortigoza-Escobar JD.
    Clin Genet; 2022 May 01; 101(5-6):575-576. PubMed ID: 35191016
    [No Abstract] [Full Text] [Related]

  • 37. High-flow nasal cannula application in an infant patient with laryngomalacia during general anesthesia: A case report.
    Kim JY, Bae J, Lee KH, Kang L, Kim KN, Jeong MA.
    Medicine (Baltimore); 2021 Dec 10; 100(49):e28102. PubMed ID: 34889265
    [Abstract] [Full Text] [Related]

  • 38. Koolen-de Vries Syndrome: Preliminary Observations of Topiramate Efficacy.
    Paolo P, Matteo F, Rossella L, Anna M, Rosario C, Paola G, Cristiano T, Giorgio R.
    Child Neurol Open; 2021 Dec 10; 8():2329048X211019183. PubMed ID: 34124281
    [Abstract] [Full Text] [Related]

  • 39. AAC barriers and facilitators for children with Koolen de Vries syndrome and childhood apraxia of speech: parent perceptions.
    Johnston SS, Blue CW, Stegenga SM.
    Augment Altern Commun; 2022 Sep 10; 38(3):148-160. PubMed ID: 35726705
    [Abstract] [Full Text] [Related]

  • 40. Aberrant right subclavian artery leading to prenatal diagnosis of Koolen de Vries syndrome.
    Parthenis C, Panagopoulos P.
    Ginekol Pol; 2021 Sep 10; 92(8):597-598. PubMed ID: 34541634
    [Abstract] [Full Text] [Related]

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