Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report

by Sonoko Sakata, Satoshi Okada, Kohei Aoyama, Keiichi Hara, Chihiro Tani, Reiko Kagawa, Akari Utsunomiya-Nakamura, Shinichiro Miyagawa, Shinichiro Miyagawa, Tsutomu Ogata, Haruo Mizuno, Haruo Mizuno, Masao Kobayashi
Published 2017-12-01

Correction to: Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction

by Young-In Chi, Timothy J. Stodola, Thiago M. De Assuncao, Elise N. Levrence, Swarnendu Tripathi, Nikita R. Dsouza, Angela J. Mathison, Donald G. Basel, Brian F. Volkman, Brian C. Smith, Gwen Lomberk, Michael T. Zimmermann, Raul Urrutia
Published 2021-06-01

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 2019-01-01

Array-CGH in patients with Kabuki-like phenotype: Identification of two patients with complex...

by González Eva, Vilardell Mireia, del Campo Miguel, Cuscó Ivon, Gener Blanca, Galán Enrique, Toledo Laura, Pérez-Jurado Luis A
Published 2008-04-01

O invasivo vazio

by Cristina Santaella Braga, Lucia Santaella Braga
Published 2014-07-01

Spermidine supplementation in rare translation-associated disorders

by Andreas Zimmermann, Didac Carmona-Gutierrez, Frank Madeo
Published 2021-03-01

Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as E...

by Marcella Zollino, Serena Lattante, Daniela Orteschi, Silvia Frangella, Paolo N. Doronzio, Ilaria Contaldo, Eugenio Mercuri, Giuseppe Marangi
Published 2017-10-01

Cystic biliary atresia with paucity of bile ducts and gene mutation in KDM6A: a case report

by Daisuke Masui, Suguru Fukahori, Tatsuki Mizuochi, Yoriko Watanabe, Kaori Fukui, Shinji Ishii, Nobuyuki Saikusa, Naoki Hashizume, Naruki Higashidate, Saki Sakamoto, Aiko Takato, Koh-ichiro Yoshiura, Yoshiaki Tanaka, Minoru Yagi
Published 2019-08-01

The influence of Japanese traditional performing arts on Tennessee Williams's late plays

by Johnson, Sarah Elizabeth
Published 2014

... químico ENU (N- Ethyl- N- Nitrosourea) como potencial modelo para a síndrome de Kabuki ...

by Nicássia de Sousa Oliveira
Published 2017

Caracterização fenotípica do camundongo mutante bate palmas induzido pelo agente mutagênico químico ENU (N- Ethyl- N- Nitrosourea) como potencial modelo para a síndrome de Kabuki

by Oliveira, Nicássia de Sousa
Published 2017

Locus heterogeneity disease genes encode proteins with high interconnectivity in the human protein interaction network

by Benjamin eKeith, David L Robertson, Kathryn eHentges
Published 2014-12-01

De novo KMT2D heterozygous frameshift deletion in a newborn with a congenital heart anomaly

by Stangler Herodež Š, Marčun Varda N, N Kokalj Vokač, Krgović D
Published 2020-08-01

The truth in the fictions: the exploration of the Chūshingura world.

by Katsumata, Yuriko
Published 2011

S-Layer Protein of Lactobacillus helveticus SBT2171 Promotes Human β-Defensin 2 Expression via TLR2–JNK Signaling

by Eiji Kobatake, Toshihide Kabuki
Published 2019-10-01

Extensively Hydrolyzed Formula (MA-mi) Induced Exacerbation of Food Protein-Induced Enterocolitis Syndrome (FPIES) in a Male Infant

by Tomoyuki Kabuki, Kosuke Joh
Published 2007-01-01

Contagem de listeria spp pelo metodo do numero mais provavel (NMP), avaliação de sua ocorrencia em carnes de frango e da eficiencia de sanitizantes na redução da contaminação por L...

by Kabuki, Dirce Yorika, 1964-
Published 1997

Rastreamento de Listeria monocytogenes em industrias processadoras de queijo frescal tipo latino, nos Estados Unidos da America, empregando a subtipagem molecular

by Kabuki, Dirce Yorika, 1964-
Published 2004

Stage and Scream: The Influence of Traditional Japanese Theater, Culture, and Aesthetics on Japan's Cinema of the Fantastic

by Petty, John E.
Published 2011

Growth of enterotoxin producing Bacillus cereus in meat substrate at 10ºC and 30ºC

by Celina Mara Soares, Dirce Yorika Kabuki, Arnaldo Yoshiteru Kuaye
Published 2012-12-01