Search Results - "Molecular Genetics"

HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report by Aram Yang, Jinsup Kim, Chang-Seok Ki, Sung Hwa Hong, Sung Yoon Cho, Dong-Kyu Jin

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NRG1 variant effects in patients with Hirschsprung disease by Gunadi, Nova Yuli Prasetyo Budi, Raman Sethi, Aditya Rifqi Fauzi, Alvin Santoso Kalim, Taufik Indrawan, Kristy Iskandar, Akhmad Makhmudi, Indra Adrianto, Lai Poh San

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Molecular Research in Rice: Agronomically Important Traits 2.0

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Features prevalence of polymorphism lle50Val gene IL4RA in patients with bronchial asthma and healthy children school age Vinnichina by V. M. Dudnyk, O. V. Kutsak

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Neonatal Screening for Congenital Adrenal Hyperplasia in Indian Newborns with Reflex Genetic Analysis of 21-Hydroxylase Deficiency by Jayakrishna Tippabathani, Venu Seenappa, Alagupandian Murugan, Nagaraja Mahishi Phani, Mahesh H. Hampe, Giridharan Appaswamy, Prakash Sadashiv Gambhir

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Structure of circulatory system diseases and their genetic predictors in athletes with high intensity of training and competitive load by A. V. Zholinsky, A. I. Kadykova, N. S. Gladyshev, M. V. Terekhov, A. A. Ivashechkin, V. V. Maksyutina, A. I. Nekrasova, S. I. Mitrofanov, M. V. Ivanov, D. A. Kashtanova, V. S. Yudin, A. A. Keskinov, S. M. Yudin, R. V. Deev, V. I. Skvortsova

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Prenatal diagnosis of short-rib polydactyly syndrome type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) associated with compound heterozygous mutations... by Chih-Ping Chen, Tsang-Ming Ko, Tung-Yao Chang, Schu-Rern Chern, Shin-Wen Chen, Shih-Ting Lai, Tzu-Yun Chuang, Wayseen Wang

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Dual African origins of global Aedes aegypti s.l. populations revealed by mitochondrial DNA. by Michelle Moore, Massamba Sylla, Laura Goss, Marion Warigia Burugu, Rosemary Sang, Luna W Kamau, Eucharia Unoma Kenya, Chris Bosio, Maria de Lourdes Munoz, Maria Sharakova, William Cormack Black

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Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports by Hassan Dastsooz, Hamid Nemati, Mohammad Ali Farazi Fard, Majid Fardaei, Mohammad Ali Faghihi

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Simultaneous Presentation of Autoimmune Hepatitis and Wilson's Disease: A Systematic Review Study by Fatemeh Famouri, Hossein Saneian, Majid Khademian, Silva Hovsepian, Peiman Nasri, Azar Jafari-Koulaee, Seyed Esmaeil Hosseini-Kordkhyli

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Mutations in the NUP93, NUP107 and NUP160 genes cause steroid-resistant nephrotic syndrome in Chinese children by Yanxinli Han, Hongyu Sha, Yuan Yang, Zhuowei Yu, Lanqi Zhou, Yi Wang, Fengjie Yang, Liru Qiu, Yu Zhang, Jianhua Zhou

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Fructose-1,6-bisphosphatase deficiency as a cause of recurrent hypoglycemia and metabolic acidosis: Clinical and molecular findings in Malaysian patients by Lip Hen Moey, Nor Azimah Abdul Azize, Yusnita Yakob, Huey Yin Leong, Wee Teik Keng, Bee Chin Chen, Lock Hock Ngu

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Intestinal Microbiota in Premature Children - the Modern State of the Problem (Literature Analysis) by I. A. Belyaeva, E. P. Bombardirova, T. V. Turti, M. D. Mitish, T. V. Potekhina

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Hormonal and genetic causes of poor response to controlled ovarian stimulation in women of late reproductive age by O.H. Boichuk, U.S. Dorofeieva, T.V. Kolomiichenko

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Effect of experimental gestational diabetes and administration of glibenclamide on mRNA level of NLRP3-inflammasome and distribution of NLRP3+-cells in mesenteric lymph nodes in pr... by Т. М. Prozorova, V. A. Kamyshna, О. М. Kamyshnyi

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Epstein-Barr virus-related hemophagocytic lymphohistiocytosis complicated with coronary artery dilation and acute renal injury in a boy with a novel X-linked inhibitor of apoptosis... by Ru-Yue Chen, Xiao-Zhong Li, Qiang Lin, Yun Zhu, Yun-Yan Shen, Qin-Ying Xu, Xue-Ming Zhu, Zhen-Jiang Bai, Ying Li

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Changes in the expression of mRNA TLR2 and 4 type, nuclear factor kВ and pro-inflammatory cytokines IL-1β and IL-17A in the epithelium of the oral cavity in children with special n... by Yu. M. Kolesnik, O. M. Kamyshnyi, M. A. Gavrilenko

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Clinicopathological and molecular genomic features of monomorphic epitheliotropic intestinal T-cell lymphoma in the Chinese population: a study of 20 cases by Chunni Chen, Yuxi Gong, Yefan Yang, Qiuyuan Xia, Qiu Rao, Yang Shao, Liuqing Zhu, Junli Zhang, Xiao Li, Pan Ji, Boya Zhai, Xiang Zhang, Zhihong Zhang

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Recognizable neonatal clinical features of aplasia cutis congenita by Ingrid Anne Mandy Schierz, Mario Giuffrè, Antonello Del Vecchio, Vincenzo Antona, Giovanni Corsello, Ettore Piro

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Clinical, endocrinological, and molecular characterization of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: a single center experience by Sun-Jeong Shin, Yeonah Sul, Ja Hye Kim, Ja Hyang Cho, Gu-Hwan Kim, Jae Hyun Kim, Jin-Ho Choi, Han-Wook Yoo

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