खोज परिणाम - "exome sequencing"

Analysis of TMIE gene mutations including the first large deletion of exon 1 with autosomal recessive non-syndromic deafness द्वारा Sima Rayat, Mohammad Farhadi, Hessamaldin Emamdjomeh, Saeid Morovvati, Masoumeh Falah

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Exome Analysis Identifies a Novel Compound Heterozygous Alteration in TGM1 Gene Leading to Lamellar Ichthyosis in a Child From Saudi Arabia: Case Presentation द्वारा Sami Raja Alallasi, Amal A. Kokandi, Babajan Banagnapali, Babajan Banagnapali, Noor Ahmad Shaik, Noor Ahmad Shaik, Bandar Ali Al-Shehri, Nuha Mohammad Alrayes, Jumana Yousuf Al-Aama, Jumana Yousuf Al-Aama, Musharraf Jelani, Musharraf Jelani

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The epigenetic modifier lysine methyltransferase 2C is frequently mutated in gastric remnant carcinoma द्वारा Bo Sun, Haojie Chen, Jiawen Lao, Cong Tan, Yue Zhang, Zhen Shao, Dazhi Xu

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Neurophenotype and genetic analysis of children with Aicardi‐Goutières syndrome in China द्वारा Shen Zhang, Weihua Zhang, Changhong Ding, Xiaotun Ren, Fang Fang, Yun Wu

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A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective द्वारा Wooderchak-Donahue Whitney L, O'Fallon Brendan, Furtado Larissa V, Durtschi Jacob D, Plant Parker, Ridge Perry G, Rope Alan F, Yetman Angela T, Bayrak-Toydemir Pinar

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Case Report: Novel Likely Pathogenic ACTN2 Variant Causing Heterogeneous Phenotype in a Korean Family With Left Ventricular Non-compaction द्वारा Joonhong Park, Joonhong Park, Yong Gon Cho, Yong Gon Cho, Ha Wook Park, Jung Sun Cho

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Bainbridge-ropers syndrome caused by loss-of-function variants in ASXL3: Clinical abnormalities, medical imaging features, and gene variation in infancy of case report द्वारा Linfeng Yang, Bin Guo, Weiwei Zhu, Lei Wang, Bingjuan Han, Yena Che, Lingfei Guo

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Genetic heterogeneity of cardiomyopathy and its correlation with patient care द्वारा Mi Jin Kim, Seulgi Cha, Jae Suk Baek, Jeong Jin Yu, Go Hun Seo, Minji Kang, Hyo-Sang Do, Sang Eun Lee, Beom Hee Lee

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The application of late amniocentesis: a retrospective study in a tertiary fetal medicine center in China द्वारा Yingting Li, Huanchen Yan, Jingsi Chen, Fei Chen, Wei Jian, Jiayan Wang, Xiaoqing Ye, Yufan Li, Nan Li, Philip C. N. Chiu, Min Chen

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Genetic Testing Requires NGS and Sanger Methodologies द्वारा Lawrence J. Jennings, Dawn Kirschmann

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Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsi... द्वारा Zahra Nouri, Akram Sarmadi, Sina Narrei, Hamidreza Kianersi, Farzan Kianersi, Mohammad Amin Tabatabaiefar

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A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome द्वारा Antonella Riva, Antonella Riva, Giulia Nobile, Thea Giacomini, Thea Giacomini, Marzia Ognibene, Marcello Scala, Marcello Scala, Ganna Balagura, Francesca Madia, Andrea Accogli, Andrea Accogli, Ferruccio Romano, Domenico Tortora, Mariasavina Severino, Paolo Scudieri, Paolo Scudieri, Simona Baldassari, Ilaria Musante, Paolo Uva, Vincenzo Salpietro, Vincenzo Salpietro, Annalaura Torella, Annalaura Torella, Vincenzo Nigro, Vincenzo Nigro, Valeria Capra, Lino Nobili, Lino Nobili, Pasquale Striano, Pasquale Striano, Maria Margherita Mancardi, Maria Margherita Mancardi, Federico Zara, Federico Zara, Michele Iacomino, Michele Iacomino

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A novel SALL1 C757T mutation in a Chinese family causes a rare disease --Townes-Brocks syndrome द्वारा Yunqian Chi, Yi Yao, Futao Sun, Wenhong Zhang, Zihan Zhang, Yunhe Wang, Wei Hao

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FGD1 Variant Associated With Aarskog-Scott Syndrome द्वारा Yilin Zhu, Qingqing Chen, Haiyan Lin, Huifei Lu, Yangbin Qu, Qingfeng Yan, Qingfeng Yan, Qingfeng Yan, Chunlin Wang

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Congenital isolated adrenocorticotropic hormone deficiency in a newborn caused by TBX19 mutation: a case report and literature review द्वारा Yinxia Dang, Juanli Zhang, Fan Wang

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Expansion of phenotypic spectrum of MYO15A pathogenic variants to include postlingual onset of progressive partial deafness द्वारा Mun Young Chang, Chung Lee, Jin Hee Han, Min Young Kim, Hye-Rim Park, Nayoung Kim, Woong-Yang Park, Doo Yi Oh, Byung Yoon Choi

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Carrying both COL1A2 and FBN2 gene heterozygous mutations results in a severe skeletal clinical phenotype: an affected family द्वारा Jing Chen, Qinqin Xiang, Xiao Xiao, Bocheng Xu, Hanbing Xie, He Wang, Mei Yang, Shanling Liu

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Etiologic Classification of 541 Infantile Spasms Cases: A Cohort Study द्वारा Pan Peng, Miriam Kessi, Leilei Mao, Fang He, Ciliu Zhang, Chen Chen, Nan Pang, Fei Yin, Fei Yin, Zou Pan, Jing Peng, Jing Peng

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Activated phosphoinositide 3-kinase δ syndrome caused by PIK3CD mutations: expanding the phenotype द्वारा Peiwei Zhao, Juan Huang, Huicong Fu, Jiali Xu, Tianhong Li, Xiankai Zhang, Qingjie Meng, Lei Zhang, Li Tan, Wen Zhang, Hebin Chen, Xiaoxia Lu, Yan Ding, Xuelian He

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A de novo heterozygous POU3F3 genotype for the p.(Q214*) variant in a fetus with transient isolated bilateral mild ventriculomegaly: a case report and review of the literature द्वारा Hongyun Zhang, Siyuan Linpeng, Yanling Teng, Can Peng, Desheng Liang, Desheng Liang, Zhuo Li, Lingqian Wu, Lingqian Wu

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