Arama Sonuçları - "Kabuki syndrome"

KABUKI SYNDROME Yazar: Doina Maria Ioan, Andrei Zamfirescu

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Recognition of Kabuki Syndrome Yazar: Rita Justo Pereira, Andreia Gomes Pereira, Joaquim Sá, Noémia Rosado da Silva

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Kabuki syndrome: clinical and molecular characteristics Yazar: Chong-Kun Cheon, Jung Min Ko

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Anesthetic care of a child with Kabuki syndrome Yazar: I. Elmitwalli, R. Banoub, R. Heng, J. D. Tobias

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A Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki Syndrome Yazar: Mina Mısırlıgil, Yılmaz Yıldız, Onur Akın, Sevinç Odabaşı Güneş, Mutluay Arslan, Bülent Ünay

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Kabuki Syndrome and Anorectal Malformations: Implications for Diagnosis and Treatment Yazar: Sotirios Siminas, Colin Tennant Baillie, Richard Turnock

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The strong association of left-side heart anomalies with Kabuki syndrome Yazar: Ja Kyoung Yoon, Kyung Jin Ahn, Bo Sang Kwon, Gi Beom Kim, Eun Jung Bae, Chung Il Noh, Jung Min Ko

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A novel gene mutation in a Korean patient with Kabuki syndrome Yazar: Soo Jin Kim, Sung Yoon Cho, Se Hyun Maeng, Young Bae Sohn, Su-Jin Kim, Chang-Seok Ki, Dong-Kyu Jin

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Diazoxide Causality Assessment of a Pericardial Effusion in a Child with Kabuki Syndrome Yazar: Irene Maffre, Marie Vincenti, Fabienne Dalla Vale, Cyril Amouroux, Oscar Werner, Alexandra Meilhac, Gaelle de Barry, Pascal Amedro

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Robotic surgery for atrial septal defect closure in a case of Kabuki syndrome Yazar: Burak Onan, Ünal Aydın, Zeynep Kahraman, İhsan Bakır

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Immune dysregulation in Kabuki syndrome: a case report of Evans syndrome and hypogammaglobulinemia Yazar: Lucia Leonardi, Alessia Testa, Mariavittoria Feleppa, Roberto Paparella, Francesca Conti, Antonio Marzollo, Alberto Spalice, Fiorina Giona, Maria Gnazzo, Gian Marco Andreoli, Francesco Costantino, Luigi Tarani

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Hypoglycemia and Dandy-Walker variant in a Kabuki syndrome patient: a case report Yazar: Wei Guo, Yanguo Zhao, Shuwei Li, Jingqun Wang, Xiang Liu

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C.E. Credit. Kabuki Syndrome and Its Oral Manifestations: A Case Report Yazar: Amanda A. Marques, Sabrina R. Ribeiro, Sabrina de C. Brasil, Flávio R. F. Alves

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Cardiac conduction abnormalities and congenital immunodeficiency in a child with Kabuki syndrome: Case report Yazar: deMello Daphne E, Mavers Melissa, Bogucki Brian, Shah Maulik, Knutsen Alan

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Case report of kabuki syndrome in a newborn caused by KMT2D gene mutation Yazar: Xuejiao Ba, Xiyao Yang, Yizhi Zhang, Fang Guo, Lihong Zhu, Rui Tong, Yanbin Yang, Yuan Qian, Hongqing Zhang

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Characteristics and surgical outcomes of cleft palate in kabuki syndrome: a case series of 11 patients Yazar: Jong-Ho Kim, Jiwon Kang, Joon Seok Oh, Taeseon Ahn, Baek-kyu Kim, Rong-Min Baek

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Pulmonary hypertension- a novel phenotypic hypothesis of Kabuki syndrome: a case report and literature review Yazar: Xiao-xian Deng, Bo-wen Jin, Shan-shan Li, Hong-mei Zhou, Qun-shan Shen, Yun-yan Li

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Novel KDM6A splice-site mutation in kabuki syndrome with congenital hydrocephalus: a case report Yazar: Zhimei Guo, Fang Liu, Hai Jun Li

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Sex-specific difference in phenotype of Kabuki syndrome type 2 patients: a matched case-control study Yazar: Yirou Wang, Yufei Xu, Yao Chen, Yabin Hu, Qun Li, Shijian Liu, Jian Wang, Xiumin Wang

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Single-Cell Transcriptome Analysis Defines Expression of Kabuki Syndrome-Associated KMT2D Targets and Interacting Partners Yazar: Badam Enkhmandakh, Paul Robson, Pujan Joshi, Anushree Vijaykumar, Dong-Guk Shin, Mina Mina, Dashzeveg Bayarsaihan

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