Search Results - "exome sequencing"

Comparison of Genetic Variants and Manifestations of OTUD6B-Related Disorder: The First Mexican Case by Maria Elena Romero-Ibarguengoitia MD, MS, PhD, Consuelo Cantú-Reyna MD, MS, Dalia Gutierrez-González MD, Héctor Cruz-Camino BS, Arnulfo González-Cantú MD, MSC, Miguel Angel Sanz Sánchez MD

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Lymphocytic interstitial non-HIV-related pneumonia in pediatrics: a case report by Andrea Dionelly Murillo Casas, Andrea Dionelly Murillo Casas, Diana María Duarte Dorado, Manuela Olaya Hernández

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Chapter Functional Annotation of Rare Genetic Variants by Ritchie, Graham

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Case Report: A developmental and epileptic encephalopathy 45 due to de novo variant of GABRB1 by Lu Wang, Lu Wang, Haiquan Xu, Jianbo Shu, Jianbo Shu, Dandan Yan, Dandan Yan, Dong Li, Chunquan Cai, Chunquan Cai

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A case of adult granulosa cell tumor of the ovary with long-term survival after multiple recurrences by Angel Hsin-Yu Pai, Ren-Chin Wu, Feng-Yuan Liu, Chiao-Yun Lin, Yenpo Lin, Chyong-Huey Lai

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Case Report: Identification of a novel PRR12 variant in a Chinese boy with developmental delay and short stature by Zhengxia Liu, Shuxia Ding, Guangwei Xu, Chunyan Fang

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A novel phenotype of 13q12.3 microdeletion characterized by epilepsy in an Asian child: a case report by Mina Wang, Bin Li, Zehuan Liao, Yu Jia, Yuanbo Fu

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A rare mutation causing autosomal dominant STAT1 deficiency in a South African multiplex kindred with disseminated BCG infection by Leonore Greybe, Daniel Leung, Nicole Wieselthaler, David M le Roux, Koon Wing Chan, Yu Lung Lau, Brian Eley

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Case Report: Paternal Uniparental Isodisomy and Heterodisomy of Chromosome 16 With a Normal Phenotype by Xu Zhang, Li Liu, Yang Liu, Xin Pan

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Case report: A Chinese boy with facial dysmorphism, immunodeficiency, livedo, and short stature syndrome by Lihong Jiang, Xin Chen, Jiaqi Zheng, Meilin Wang, Hui Bo, Hui Bo, Geli Liu

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Recurrent Fetal Anophthalmia Caused by retinoids acid gene 6 mutations: Correlation between prenatal ultrasonography, magnetic resonance imaging, and pathology by Chia-Jung Chiang, Yueh-Chin Cheng, Yi-Shan Tsai, Pao-Lin Kuo, Chiung-Hsin Chang

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A Novel Heterozygous ACAN Variant in a Short Patient Born Small for Gestational Age with Recurrent Patellar Dislocation: A Case Report by Su Ji Kim, Jong Seo Yoon, Il Tae Hwang

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MCAD-Deficiency with Severe Neonatal Onset, Fatal Outcome and Normal Acylcarnitine Profile by Ralph Fingerhut, Pascal Joset, Niels J. Rupp, Martin Girsberger, Susanna H.M. Sluka, Theresia Herget, Silvia Miranda Azzarello-Burri, Anita Rauch, Matthias Baumgartner

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Case report: A novel truncating variant of BCL11B associated with rare feature of craniosynostosis and global developmental delay by Xuemei Zhao, Bingbing Wu, Huiyao Chen, Ping Zhang, Yanyan Qian, Xiaomin Peng, Xinran Dong, Yaqiong Wang, Gang Li, Chenbin Dong, Huijun Wang

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

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Identification of a Novel <i>FAM83H</i> Mutation and Management of Hypocalcified Amelogenesis Imperfecta in Early Childhood by Ji-Soo Song, Yejin Lee, Teo Jeon Shin, Hong-Keun Hyun, Young-Jae Kim, Jung-Wook Kim

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A novel TCN2 mutation with unusual clinical manifestations of hemolytic crisis and unexplained metabolic acidosis: expanding the genotype and phenotype of transcobalamin II deficie... by Pongpak Pongphitcha, Nongnuch Sirachainan, Arthaporn Khongkraparn, Thipwimol Tim-Aroon, Duantida Songdej, Duangrurdee Wattanasirichaigoon

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Case report: Novel DGUOK variants associated with idiopathic non-cirrhotic portal hypertension in a Han Chinese child by Jia-Qi Li, Jia-Yan Feng, Ying Gong, Wang-Qiang Li, Teng Liu

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An adolescent case of ASXL3-related disorder with delayed onset of feeding difficulty by Yuto Arai, Tohru Okanishi, Tetsuya Okazaki, Hiroyuki Awano, Rie Seyama, Yuri Uchiyama, Naomichi Matsumoto, Akiko Tamasaki, Yoshihiro Maegaki

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Unique autosomal recessive variant of palmoplantar keratoderma associated with hearing loss not caused by known mutations by Moustafa Abdelaal Hegazi, Sommen Manou, Hazem Sakr, Guy Van Camp

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