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Journal Abstract Search

133 related items for PubMed ID: 38650363

  • 41. Age-dependent epileptic encephalopathy associated with an unusual co-occurrence of ZEB2 and SCN1A variants.
    Nardello R, Fontana A, Mangano GD, Efthymiou S, Salpietro V, Houlden H, Mangano S.
    Epileptic Disord; 2020 Feb 01; 22(1):111-115. PubMed ID: 32031527
    [Abstract] [Full Text] [Related]

  • 42. Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing.
    Babkina N, Deignan JL, Lee H, Vilain E, Sankar R, Giurgea I, Mowat D, Graham JM.
    Eur J Med Genet; 2016 Feb 01; 59(2):70-4. PubMed ID: 26721324
    [Abstract] [Full Text] [Related]

  • 43. Identification of the DNA methylation signature of Mowat-Wilson syndrome.
    Caraffi SG, van der Laan L, Rooney K, Trajkova S, Zuntini R, Relator R, Haghshenas S, Levy MA, Baldo C, Mandrile G, Lauzon C, Cordelli DM, Ivanovski I, Fetta A, Sukarova E, Brusco A, Pavinato L, Pullano V, Zollino M, McConkey H, Tartaglia M, Ferrero GB, Sadikovic B, Garavelli L.
    Eur J Hum Genet; 2024 Jun 01; 32(6):619-629. PubMed ID: 38351292
    [Abstract] [Full Text] [Related]

  • 44. Rare association of Hirschsprung's disease and Joubert syndrome.
    Ozyurek H, Kayacik OE, Gungor O, Karagoz F.
    Eur J Pediatr; 2008 Apr 01; 167(4):475-7. PubMed ID: 17516083
    [Abstract] [Full Text] [Related]

  • 45. Paroxysmal choreoathetosis.
    Lüders HO.
    Eur Neurol; 1996 Apr 01; 36 Suppl 1():20-3. PubMed ID: 8791017
    [Abstract] [Full Text] [Related]

  • 46. Cervical disc prolapse with cord compression presenting with choreoathetosis and dystonia.
    Tan EK, Lo YL, Chan LL, See SJ, Hong A, Wong MC.
    Neurology; 2002 Feb 26; 58(4):661-2. PubMed ID: 11865154
    [No Abstract] [Full Text] [Related]

  • 47. Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in the ZEB2 gene.
    Cecconi M, Forzano F, Garavelli L, Pantaleoni C, Grasso M, Dagna Bricarelli F, Perroni L, Di Maria E, Faravelli F.
    Am J Med Genet A; 2008 Dec 01; 146A(23):3095-9. PubMed ID: 19006215
    [No Abstract] [Full Text] [Related]

  • 48. [Paroxysmal choreoathetosis (on the clinical picture of Rülf's spasm)].
    Leĭbovich TS.
    Zh Nevropatol Psikhiatr Im S S Korsakova; 1966 Dec 01; 66(10):1499-505. PubMed ID: 6000311
    [No Abstract] [Full Text] [Related]

  • 49. Electrical status epilepticus during sleep in Mowat-Wilson syndrome.
    Bonanni P, Negrin S, Volzone A, Zanotta N, Epifanio R, Zucca C, Osanni E, Petacchi E, Fabbro F.
    Brain Dev; 2017 Oct 01; 39(9):727-734. PubMed ID: 28501473
    [Abstract] [Full Text] [Related]

  • 50. Mowat-Wilson syndrome: neurological and molecular study in seven patients.
    Paz JA, Kim CA, Goossens M, Giurgea I, Marques-Dias MJ.
    Arq Neuropsiquiatr; 2015 Jan 01; 73(1):12-7. PubMed ID: 25608121
    [Abstract] [Full Text] [Related]

  • 51. Paroxysmal sporadic kinesigenic choreoathetosis.
    Nair KR, Devi TK, Potti SN.
    J Assoc Physicians India; 1990 Oct 01; 38(10):803-5. PubMed ID: 2084093
    [No Abstract] [Full Text] [Related]

  • 52. A case of Mowat-Wilson syndrome caused by a truncating mutation within exon 8 of the ZEB2 gene.
    Meral C, Malbora B, Celikel F, Aydemir G, Süleymanoğlu S, Zollino M, Derbent M.
    Turk J Pediatr; 2012 Oct 01; 54(5):523-7. PubMed ID: 23427518
    [Abstract] [Full Text] [Related]

  • 53. Avoiding pitfalls in molecular genetic testing: case studies of high-resolution array comparative genomic hybridization testing in the definitive diagnosis of Mowat-Wilson syndrome.
    Kluk MJ, An Y, James P, Coulter D, Harris D, Wu BL, Shen Y.
    J Mol Diagn; 2011 May 01; 13(3):363-7. PubMed ID: 21497296
    [Abstract] [Full Text] [Related]

  • 54. Exploring the genetic counselor's role in facilitating meaning-making: rare disease diagnoses.
    Helm BM.
    J Genet Couns; 2015 Apr 01; 24(2):205-12. PubMed ID: 25566742
    [Abstract] [Full Text] [Related]

  • 55. [Analysis of a case with Mowat-Wilson syndrome caused by ZEB2 gene variant].
    Ma J, Liu Y, Zhang K, Lyu Y, Gao M, Wang D, Gai Z, Liu Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 May 10; 37(5):539-542. PubMed ID: 32335881
    [Abstract] [Full Text] [Related]

  • 56. Peculiar dysmorphic syndrome with orthochromatic leucodystrophy. Discussion of its relationship with Cockayne's syndrome and Pelizaeus-Merzbacher's disease.
    Martin JJ, Deberdt R, Philippart M, Van Acker KJ, Hooft C.
    Acta Neuropathol; 1971 May 10; 18(3):224-33. PubMed ID: 5561979
    [No Abstract] [Full Text] [Related]

  • 57. Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet.
    Friedman JR, Thiele EA, Wang D, Levine KB, Cloherty EK, Pfeifer HH, De Vivo DC, Carruthers A, Natowicz MR.
    Mov Disord; 2006 Feb 10; 21(2):241-5. PubMed ID: 16149086
    [Abstract] [Full Text] [Related]

  • 58. Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome.
    Bourchany A, Giurgea I, Thevenon J, Goldenberg A, Morin G, Bremond-Gignac D, Paillot C, Lafontaine PO, Thouvenin D, Massy J, Duncombe A, Thauvin-Robinet C, Masurel-Paulet A, Chehadeh SE, Huet F, Bron A, Creuzot-Garcher C, Lyonnet S, Faivre L.
    Am J Med Genet A; 2015 Jul 10; 167(7):1587-92. PubMed ID: 25899569
    [Abstract] [Full Text] [Related]

  • 59. [Clinical and genetic analysis of a patient with Mowat-Wilson syndrome].
    Zhang P, Hou Y, Liao P, Yuan X, Li N, Huang Q, Yang J.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 May 10; 38(5):465-468. PubMed ID: 33974257
    [Abstract] [Full Text] [Related]

  • 60. Autosomal dominant paroxysmal kinesigenic choreoathetosis. An electroneurophysiological study.
    Busard HL, Renier WO, Gabreëls FJ, Vos AJ, Declerck AC, Verhey FH.
    Clin Neurol Neurosurg; 1984 May 10; 86(4):281-9. PubMed ID: 6096061
    [Abstract] [Full Text] [Related]

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