Search Results - "Molecular Genetics"

Characterization of a novel KCNJ2 sequence variant detected in Andersen-Tawil syndrome patients by Stefanie Scheiper, Brigitte Hertel, Britt-Maria Beckmann, Stefan Kääb, Gerhard Thiel, Silke Kauferstein

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Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging Combination by Azza AL Shidhani, Abdulhamid Al Hinai, Khalid Al Thihli, Hilal Al Mandhari, Saif Al Yaarubi, Irfan Ullah, Nadia Al-Hashmi, Fathiya Al Murshedi

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Acute Myeloid Leukaemia with Gene Mutation: A Correlation with Haematological and Immunophenotypic Characteristics and Our Experience in a Tertiary Care Cancer Center in South Indi... by Rachna KHERA, Faiq AHMED, Manasi MUNDADA, Manasi MUNDADA, Sudha S MURTHY, Sandhya DEVİG, Senthil J RAJAPPA, Krishna Mohan MALLAVARAPU, A SANTA, Pavan KUMAR

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Genetics of Autosomal Recessive Polycystic Kidney Disease and Its Differential Diagnoses by Carsten Bergmann, Carsten Bergmann

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Citrullinemia type I is associated with a novel splicing variant, c.773 + 4A > C, in ASS1: a case report and literature review by Yiming Lin, Hongzhi Gao, Bin Lu, Shuang Zhou, Tianwen Zheng, Weihua Lin, Lin Zhu, Mengyi Jiang, Qingliu Fu

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Clinical, pathological and genetic characteristics of 17 unrelated children with Alagille Syndrome by Jianguo Yan, Yuanzhi Huang, Lili Cao, Yi Dong, Zhiqiang Xu, Fuchuan Wang, Yinjie Gao, Danni Feng, Min Zhang

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Introduction of a bead beating step improves fungal DNA extraction from selected patient specimens by Sebastian Scharf, Anna Bartels, Mustafa Kondakci, Klaus Pfeffer, Birgit Henrich, Rainer Haas

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Identification of a Novel VPS13B Mutation in a Chinese Patient with Cohen Syndrome by Whole-Exome Sequencing by Hu X, Huang T, Liu Y, Zhang L, Zhu L, Peng X, Zhang S

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Osteogenesis imperfecta type I: Second-trimester diagnosis and incidental identification of a dominant COL1A1 deletion mutation in the paucisymptomatic father by Chih-Ping Chen, Yi-Ning Su, Tung-Yao Chang, Schu-Rern Chern, Chen-Yu Chen, Jun-Wei Su, Wayseen Wang

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Case Report: Recurrent Hemiplegic Migraine Attacks Accompanied by Intractable Hypomagnesemia Due to a de novo TRPM7 Gene Variant by Meifang Lei, Ping Wang, Ping Wang, Hong Li, Xiaojun Liu, Jianbo Shu, Jianbo Shu, Qianqian Zhang, Chunquan Cai, Chunquan Cai, Chunquan Cai, Dong Li, Yuqin Zhang

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Orofacial Muscle Weakening in Facioscapulohumeral Muscular Dystrophy (FSHD) Patients by Dimitrios Konstantonis, Kyriaki Kekou, Petros Papaefthymiou, Heleni Vastardis, Nikoleta Konstantoni, Maria Athanasiou, Maria Svingou, Anastasia Margariti, Angeliki Panousopoulou

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An association between the vitamin D receptor BsmI polymorphism and the incidence of placental insufficiency in women at high risk of infection by G.S. Manasova, V.V. Artyomenko, N.V. Didenkul, N.V. Kuzmina, J. Pollacco

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Effect of Pro12Ala polymorphism of PPARG gene on lipid peroxidation and antioxidant defense in patients with type 2 diabetes depending on the duration of the disease by V. Y. Mokrii, S. V. Ziablytsev

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A novel SRY nonsense mutation in a case of Swyer syndrome by Clara Machado, Angela Pereira, José Matos Cruz, Alexandra Cadilhe, Albina Silva, Almerinda Pereira

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Evolution and utility of preimplantation genetic testing for monogenic disorders in assisted reproduction - A narrative review by Firuza R Parikh, Arundhati S Athalye, Dhananjaya K Kulkarni, Rupesh R Sanap, Suresh B Dhumal, Dhanashree J Warang, Dattatray J Naik, Prochi F Madon

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Changes in Intestinal Microbiota Composition in 1-5 Years Old Children with Atopic Dermatitis: Cross Sectional Study by Julia V. Yudina, Alfiia I. Aminova, Andrey P. Prodeus, Anatoly A. Korsunskiy

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Clinical and molecular evaluation of insulin autoimmune syndrome in a woman with Graves' disease who subsequently became pregnant: A case report by Carolina Fux-Otta, Raúl Reynoso, Peter Chedraui, Paula Estario, María E. Estario, Gabriel Iraci, Noelia Ramos, Mariana Di Carlo, Victoria Gamba, Adela Sembaj

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Epilepsy Phenotypes of Vitamin B6-Dependent Diseases: An Updated Systematic Review by Mario Mastrangelo, Valentina Gasparri, Katerina Bernardi, Silvia Foglietta, Georgia Ramantani, Francesco Pisani

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Molecular and Clinicopathological Features of Gastrointestinal Stromal Tumors in Vietnamese Patients by Quoc Dat Ngo, Quoc Thang Pham, Dang Anh Thu Phan, Anh Vu Hoang, Thi Ngoc Ha Hua, Sao Trung Nguyen

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Case Report: Two different acromelic dysplasia phenotypes in a Chinese family caused by a missense mutation in FBN1 and a literature review by Fengyan Tian, Xiao Dong, Ruyue Yuan, Xiaohan Hou, Jing Qing, Yani Li

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