Search Results - "Molecular Genetics"

Theranostics of uterine leiomyoma: present and future by O.S. Salekh, D.M. Zhelezov, I.Z. Hladchuk, A.G. Volyanska

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Detection of maternal transmission of a splicing mutation in the TSC2 gene following prenatal diagnosis of fetal cardiac rhabdomyomas mimicking congenital cystic adenomatoid malfor... by Chih-Ping Chen, Tung-Yao Chang, Wan-Yuo Guo, Yi-Ning Su, Yi-Yung Chen, Schu-Rern Chern, Jun-Wei Su, Wayseen Wang

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Systemic Amyloidosis with Cardiac Involvement: Features of Course and Diagnostic Difficulties by E. V. Voloshinova, I. Yu. Khorkina, A. M. Dzuban, E. V. Yakovleva

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A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia by Yiming Lin, Zhenzhu Zheng, Wenjia Sun, Qingliu Fu

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Rapid detection of K650E mutation in FGFR3 using uncultured amniocytes in a pregnancy affected with fetal cloverleaf skull, occipital pseudoencephalocele, ventriculomegaly, straigh... by Chih-Ping Chen, Tung-Yao Chang, Ming-Huei Lin, Schu-Rern Chern, Jun-Wei Su, Wayseen Wang

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A Homozygote Mutation in S-Antigen Visual Arrestin SAG Gene in an Iranian Patient with Oguchi Type One: A Case Report by Hajar ARYAN, Atekeh BAHADORI, Dariush D. FARHUD, Marjan ZARIF YEGANEH, Haniyeh POURKALHOR

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The von Willebrand factor as a marker of partially controlled asthma severity in children by N.I. Makieieva, V.V. Andrushchenko

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Prader-Willi syndrome: a single center's experience in Korea by Yea Ji Kim, Chong Kun Cheon

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Clinical evaluation study of the German network of disorders of sex development (DSD)/intersexuality: study design, description of the study population, and data quality by Jürgensen Martina, Kleinemeier Eva, Kropf Siegfried, Lux Anke, Thyen Ute

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Novel variants in the ACTA2 and MYH11 genes in a Cypriot family with thoracic aortic aneurysms: a case report by Anna Keravnou, Evy Bashiardes, Kyriaki Michailidou, Marinos Soteriou, Areti Moushi, Marios Cariolou

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RISK FACTORS OF ENDOMETRIOSIS-ASSOCIATED INFERTILITY AND A COMPUTER PROGRAM FOR PREOPERATIVE DIAGNOSIS OF ENDOMETRIOSIS IN INFERTILITY by Лариса Николаевна Данилова, Наталья Владимировна Артымук

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High resolution melting curve analysis, a rapid and affordable method for mutation analysis in childhood acute myeloid leukemia by Yin eLiu, Jingyan eTang, Peter eWakamatsu, Huiliang eXue, Jing eChen, Paul S Gaynon, Shuhong eShen, Weili eSun

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An unprecedented COPA gene mutation in two patients in the same family: comparative clinical analysis of newly reported patients with other known COPA gene mutations by Anjali Patwardhan, Charles H. Spencer

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Potts Shunt in Children With Familial Primary Pulmonary Hypertension: A Case Report and Brief Literature Review by Yazdan Ghandi, Ali Arjmand Shabestari, Mahya Mobinikhaledi

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The role of chronic cervicitis and disorders of local immunity of the cervix in the etiology of undeveloped pregnancy by Anna I. Fedorova, Evgenii I. Novikov, Ekaterina A. Grin, Andrei E. Myagkov, Anna I. Koptelova

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Innovative Family-Based Genetically Informed Series of Analyses of Whole-Exome Data Supports Likely Inheritance for Grammar in Children with Specific Language Impairment by Erin M. Andres, Kathleen Kelsey Earnest, Hao Xuan, Cuncong Zhong, Mabel L. Rice, Muhammad Hashim Raza

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POLYMORPHISMS OF ENDOTHELIAL NITRIC OXIDE SYNTHASE GENE AS PREDICTORS OF WOLFF-PARKINSON-WHITE SYNDROME by G. V. Matyushin, S. Yu. Nikulina, A. A. Chernova, I. I. Lebedeva, A. A. Semenchukov

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Recurrent cystitis and bacterial vaginosis: how to avoid polypharmacy by Ekaterina V. Kulchavenya, Aleksandr A. Breusoff

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Genetic predisposition to metabolic dysfunction-associated fatty liver disease by O.E. Abaturov, A.O. Nikulina

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Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year by Şervan Özalkak, Meliha Demiral, Edip Ünal, Funda Feryal Taş, Hüseyin Onay, Hüseyin Demirbilek, Mehmet Nuri Ozbek

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