Search Results - "Kabuki syndrome"

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  1. 21
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    Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation by Ettore Piro, Ingrid Anne Mandy Schierz, Vincenzo Antona, Maria Pia Pappalardo, Mario Giuffrè, Gregorio Serra, Giovanni Corsello

    Published 2020
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  2. 22
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    Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature review by Chengqi Xin, Chun Wang, Yachen Wang, Jingyuan Zhao, Liang Wang, Runjie Li, Jing Liu

    Published 2018
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  3. 23
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    BAC-FISH refutes report of an 8p22-8p23.1 inversion or duplication in 8 patients with Kabuki syndrome by Hobart Holly H, Morris Colleen A, Kimberley Kendra W

    Published 2006
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  4. 24
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    Case report: A study on the de novo KMT2D variant of Kabuki syndrome with Goodpasture's syndrome by whole exome sequencing by Shuolin Li, Jing Liu, Yuan Yuan, Aizhen Lu, Fang Liu, Li Sun, Quanli Shen, Libo Wang

    Published 2022
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  5. 25
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    A de novo KMT2D mutation in a girl with Kabuki syndrome associated with endocrine symptoms: a case report by Jung-Eun Moon, Su-Jeong Lee, Cheol Woo Ko

    Published 2018
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  6. 26
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    Diffuse Adenomatosis and Hepatocellular Carcinoma Treated with Liver Transplantation in an Adolescent Female with Kabuki Syndrome with a Novel KMT2D Gene Mutation by Leander D. Timothy, Heidi D. Lehrke, Vishal S. Chandan, Amy B. Kolbe, Katryn N. Furuya

    Published 2019
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  7. 27
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    KMT2D-related disorder with a restricted spectrum distinct from Kabuki syndrome: A rare case report describing male twins in Taiwan and a literature review by Jing-Er Chen, Yun-Ru Chen, Hsin-Hui Wang, Dau-Ming Niu, Yen-Fu Cheng, Yann-Jang Chen

    Published 2023
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  8. 28
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    Anemia hemolítica autoimune em paciente com síndrome de Kabuki - um relato de caso em São Paulo e breve discussão sobre correlação entre síndrome de Kabuki e autoimunidade... by Aline Barbosa Lopes, Maki Hirose, Dário Silva Da Silva Júnior

    Published 2022
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  9. 29
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    Editorial: Case Reports in Pediatric Rheumatology 2022 by Maryam Bakhtiari Koohsorkhi, Junfeng Wu, Vahid Ziaee, Vahid Ziaee, Vahid Ziaee, Vahid Ziaee

    Published 2023
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  10. 30
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    The Clinical Spectrum of Inflammatory Bowel Disease Associated With Specific Genetic Syndromes: Two Novel Pediatric Cases and a Systematic Review by Simona Gatti, Giulia Gelzoni, Giulia N. Catassi, Carlo Catassi

    Published 2021
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  11. 31
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    What's new in genetics of congenital heart defects by Maria Cristina Digilio, Bruno Marino

    Published 2016
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  12. 32
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    Array-CGH in patients with Kabuki-like phenotype: Identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration by González Eva, Vilardell Mireia, del Campo Miguel, Cuscó Ivon, Gener Blanca, Galán Enrique, Toledo Laura, Pérez-Jurado Luis A

    Published 2008
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