Search Results - "exome sequencing"

A Neonate with Autosomal Dominant Pseudohypoaldosteronism Type 1 Due to a Novel Microdeletion of the <i>NR3C2</i> Gene at 4q31.23 by Su Jin Kim, Dasom Park, Woori Jang, Juyoung Lee

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Case report: First case report of an Emirati child with a novel gene variant causing aromatic L-amino acid decarboxylase deficiency by Mohamed O. E. Babiker, Manju A. Kurian, Manju A. Kurian, Jehan Suleiman, Jehan Suleiman

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An alpha-helix variant p.Arg156Pro in LMNA as a cause of hereditary dilated cardiomyopathy: genetics and bioinfomatics exploration by Lei Chang, Rong Huang, Jianzhou Chen, Guannan Li, Guangfei Shi, Biao Xu, Lian Wang

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A case report of a preterm infant with KBG syndrome and hepatoblastoma by Kyoung Sung Yun, Seung Han Shin, Jaemoon Koh, Jung Min Ko, Jung Yoon Choi, Nam-Joon Yi

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A Novel Homozygous Missense Variant in the LRRC32 Gene Is Associated With a New Syndrome of Cleft Palate, Progressive Vitreoretinopathy, Growth Retardation, and Developmental Delay by Zufit Hexner-Erlichman, Boris Fichtman, Yoav Zehavi, Yoav Zehavi, Morad Khayat, Haneen Jabaly-Habib, Haneen Jabaly-Habib, Lee S. Izhaki-Tavor, Moshe Dessau, Orly Elpeleg, Ronen Spiegel, Ronen Spiegel

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Case Report and Review of the Literature: A New and a Recurrent Variant in the VARS2 Gene Are Associated With Isolated Lethal Hypertrophic Cardiomyopathy, Hyperlactatemia, and Pulm... by Katarína Kušíková, René Günther Feichtinger, Bernhard Csillag, Ognian Kostadinov Kalev, Serge Weis, Hans-Christoph Duba, Johannes Adalbert Mayr, Denisa Weis

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Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report by Magdalena Danyel, Eun Kyung Suk, Vera Raile, Jutta Gellermann, Alexej Knaus, Denise Horn

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Case report: Muscle involvement in a Chinese patient with TRNT1-related disorder by Cui-Jie Wei, Yi-Dan Liu, Yan-Ling Yang, Yuan Wu, Jie-Yu Liu, Xing-Zhi Chang, Ying Hua, Yu-He Liu, Hui Xiong

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Epithelioid angiomyolipoma of the liver in a patient with Li-Fraumeni syndrome: a case report  by Yaewon Yang, Jisun Lee, Chang Gok Woo, Ok-Jun Lee, Seung-Myoung Son

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Aplastic anemia with thrombopoietin gene mutation successfully treated with romiplostim monotherapy by Niranjan Gurunath Hegde, Deenadayalan Munirathnam, Meena Sivasankaran, Ravikumar Thangadorai

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Novel mutation in XPNPEP3 in a patient with heart failure without nephronophthisis-like nephropathy (NPHPL1): case report and literature review by Zhen Zhen, Ziyan Dong, Lu Gao, Qin Wang, Xi Chen, Jia Na, Yue Yuan

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Novel compound heterozygous mutation in WEE2 is associated with fertilization failure: case report of an infertile woman and literature review by Ye Tian, Guojie Wang, Jin Wang, Xiaohuan Mu, Haixia Chen, Xueru Song, Xiaohong Bai

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Prenatal Features of MIRAGE Syndrome-Case Report and Review of the Literature by Anca Maria Panaitescu, Iulia Huluță, Gabriel-Petre Gorecki, Luminita Nicoleta Cima, Vlad M. Voiculescu, Florina Mihaela Nedelea, Nicolae Gică

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Comprehensive evaluation of the child with global developmental delays or intellectual disability by Abdullah Nasser Aldosari, T. Saeed Aldosari

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PC Splice-Site Variant c.1825+5G>A Caused Intron Retention in a Patient With Pyruvate Carboxylase Deficiency: A Case Report by DongYing Tao, HuiQin Zhang, Jingmin Yang, HuanHong Niu, JingJing Zhang, Minghua Zeng, ShengQuan Cheng

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Comparative Analysis for the Performance of Variant Calling Pipelines on Detecting the de novo Mutations in Humans by Yu Liang, Li He, Yiru Zhao, Yinyi Hao, Yifan Zhou, Menglong Li, Chuan Li, Xuemei Pu, Zhining Wen

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Monogenic Causes Identified in 23.68% of Children with Steroid Resistant Nephrotic Syndrome: A Single-Centre Study by Luyan Zhang, Fei Zhao, Guixia Ding, Ying Chen, Sanlong Zhao, Qiuxia Chen, Yugen Sha, Ruochen Che, Songming Huang, Bixia Zheng, Aihua Zhang

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A family of Melnick-Needles syndrome: a case report by Chi Hoon Oh, Chang Ho Lee, So Young Kim, So-Young Lee, Hak Hoon Jun, Soonchul Lee

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The Genetic Basis of Type 2 Diabetes in Hispanics and Latin Americans: Challenges and Opportunities by Josep M. Mercader, Josep M. Mercader, Jose C. Florez, Jose C. Florez, Jose C. Florez

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Case Report: Identification and Functional Analysis of a Homozygous Synonymous Variant in the PLOD1 Gene in a Chinese Neonatal With the Ehlers-Danlos Syndrome by Xiaodan Yan, Xiaodan Yan, Jianbo Shu, Jianbo Shu, Yanyan Nie, Ying Zhang, Ying Zhang, Ping Wang, Ping Wang, Weiwei Zhou, Weiwei Zhou, Xiaoyu Cui, Xiaoyu Cui, Yang Liu

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