These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

215 related items for PubMed ID: 27922244

  • 21.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 22. Congenital heart defects in molecularly proven Kabuki syndrome patients.
    Digilio MC, Gnazzo M, Lepri F, Dentici ML, Pisaneschi E, Baban A, Passarelli C, Capolino R, Angioni A, Novelli A, Marino B, Dallapiccola B.
    Am J Med Genet A; 2017 Nov; 173(11):2912-2922. PubMed ID: 28884922
    [Abstract] [Full Text] [Related]

  • 23.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 24.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 25. Kabuki syndrome revisited.
    Bokinni Y.
    J Hum Genet; 2012 Apr; 57(4):223-7. PubMed ID: 22437206
    [Abstract] [Full Text] [Related]

  • 26.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 27. On the significance of craniosynostosis in a case of Kabuki syndrome with a concomitant KMT2D mutation and 3.2 Mbp de novo 10q22.3q23.1 deletion.
    Topa A, Samuelsson L, Lovmar L, Stenman G, Kölby L.
    Am J Med Genet A; 2017 Aug; 173(8):2219-2225. PubMed ID: 28590022
    [Abstract] [Full Text] [Related]

  • 28. KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection.
    Badalato L, Farhan SM, Dilliott AA, Care4Rare Canada Consortium, Bulman DE, Hegele RA, Goobie SL.
    Am J Med Genet A; 2017 Jan; 173(1):183-189. PubMed ID: 27991736
    [Abstract] [Full Text] [Related]

  • 29.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 30. Hypoglycemia in Kabuki syndrome.
    Subbarayan A, Hussain K.
    Am J Med Genet A; 2014 Feb; 164A(2):467-71. PubMed ID: 24311525
    [Abstract] [Full Text] [Related]

  • 31. Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation.
    Piro E, Schierz IAM, Antona V, Pappalardo MP, Giuffrè M, Serra G, Corsello G.
    Ital J Pediatr; 2020 Sep 18; 46(1):136. PubMed ID: 32948218
    [Abstract] [Full Text] [Related]

  • 32. A Patient with Kabuki Syndrome Mutation Presenting with Very Severe Aplastic Anemia.
    Tamura S, Kosako H, Furuya Y, Yamashita Y, Mushino T, Mishima H, Kinoshita A, Nishikawa A, Yoshiura KI, Sonoki T.
    Acta Haematol; 2022 Sep 18; 145(1):89-96. PubMed ID: 34515044
    [Abstract] [Full Text] [Related]

  • 33. Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature review.
    Xin C, Wang C, Wang Y, Zhao J, Wang L, Li R, Liu J.
    BMC Med Genet; 2018 Feb 27; 19(1):31. PubMed ID: 29482518
    [Abstract] [Full Text] [Related]

  • 34. Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life.
    Luperchio TR, Applegate CD, Bodamer O, Bjornsson HT.
    Mol Genet Genomic Med; 2020 Feb 27; 8(2):e1072. PubMed ID: 31814321
    [Abstract] [Full Text] [Related]

  • 35. Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis.
    Gürbüz F, Özalp Yüreğir Ö, Ceylaner S, Topaloğlu AK, Yüksel B.
    J Clin Res Pediatr Endocrinol; 2016 Mar 05; 8(1):105-6. PubMed ID: 26757828
    [No Abstract] [Full Text] [Related]

  • 36.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 37. Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.
    Micale L, Augello B, Maffeo C, Selicorni A, Zucchetti F, Fusco C, De Nittis P, Pellico MT, Mandriani B, Fischetto R, Boccone L, Silengo M, Biamino E, Perria C, Sotgiu S, Serra G, Lapi E, Neri M, Ferlini A, Cavaliere ML, Chiurazzi P, Monica MD, Scarano G, Faravelli F, Ferrari P, Mazzanti L, Pilotta A, Patricelli MG, Bedeschi MF, Benedicenti F, Prontera P, Toschi B, Salviati L, Melis D, Di Battista E, Vancini A, Garavelli L, Zelante L, Merla G.
    Hum Mutat; 2014 Jul 05; 35(7):841-50. PubMed ID: 24633898
    [Abstract] [Full Text] [Related]

  • 38. Autism spectrum disorder in Kabuki syndrome: clinical, diagnostic and rehabilitative aspects assessed through the presentation of three cases.
    Parisi L, Di Filippo T, Roccella M.
    Minerva Pediatr; 2015 Aug 05; 67(4):369-75. PubMed ID: 26129805
    [Abstract] [Full Text] [Related]

  • 39. Holoprosencephaly in Kabuki syndrome.
    Daly T, Roberts A, Yang E, Mochida GH, Bodamer O.
    Am J Med Genet A; 2020 Mar 05; 182(3):441-445. PubMed ID: 31846209
    [Abstract] [Full Text] [Related]

  • 40.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

    Page: [Previous] [Next] [New Search]
    of 11.