Search Results - "genetic testing"

A female patient carrying a novel DMD mutation with non-random X-chromosome inactivation from a DMD family by Ming-Xia Sun, Miao Jing, Ying Hua, Jian-Biao Wang, Sheng-Quan Wang, Li-Lan Chen, Liang Ju, Yan-Shan Liu

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Outcome of two pairs of monozygotic twins with pleuropulmonary blastoma: case report by Shihan Zhang, Xisi Wang, Sihui Li, Siyu Cai, Tong Yu, Libing Fu, Na Zhang, Xiaoxia Peng, Qi Zeng, Xiaoli Ma

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First report of SYNE1 arthrogryposis multiplex congenita from Saudi Arabia with a novel mutation: a case report by Naglaa M. Kamal, AlaaEddin M. Alzeky, Maher R. Omair, Ruwayd A. Attar, Abdullah M. Alotaibi, Abdullah Safar, Nawal S. Alosaimi, Sara A. S. Abosabie

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A Systematic Review on the Existing Screening Pathways for Lynch Syndrome Identification by Alessia Tognetto, Maria Benedetta Michelazzo, Giovanna Elisa Calabró, Brigid Unim, Marco Di Marco, Walter Ricciardi, Walter Ricciardi, Roberta Pastorino, Stefania Boccia

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Delayed cystic fibrosis diagnosis due to presumed celiac disease-A case report from Syria by Yahia Ranjous, Abdulrahman Al Balkhi, Nazir Alahmad, Ali Asaad, Ayman Ali

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Dysferlinopathy misdiagnosed with juvenile polymyositis in the pre-symptomatic stage of hyperCKemia: a case report and literature review by Cecilia Contreras-Cubas, Francisco Barajas-Olmos, Maria Inés Frayre-Martínez, Georgina Siordia-Reyes, Claudia C. Guízar-Sánchez, Humberto García-Ortiz, Lorena Orozco, Vicente Baca

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A case report of IPEX syndrome in Palestine: detailed family identification and breadth of disorders with the same defect by Lana Malhis, Zeidan AbdalSalam, Yumna Njoum, Anan Abdelhaq, Muna Sharaf

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Echocardiographic Findings and Genotypes in Autosomal Dominant Polycystic Kidney Disease by Ryohei Miyamoto, Akinari Sekine, Takuya Fujimaru, Tatsuya Suwabe, Hiroki Mizuno, Eiko Hasegawa, Masayuki Yamanouchi, Motoko Chiga, Takayasu Mori, Eisei Sohara, Shinichi Uchida, Naoki Sawa, Yoshifumi Ubara, Junichi Hoshino

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Molecular profile of the Lynch Syndrome in the Republic of Macedonia by Marija Hiljadnikova-Bajro, Toni Josifovski, Milco Panovski, Aleksandar J. Dimovski

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Persistent goiter with congenital hypothyroidism due to mutation in gene by So Yoon Jung, Jeongho Lee, Dong Hwan Lee

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Long-term clinical course of patients with catecholaminergic polymorphic ventricular tachycardia: A more than 10-year follow-up cohort study by Ekaterina Kulbachinskaya, Vera Bereznitskaya

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Case report of the perinatal form of Nieman-Pick disease type С against the backdrop of pathogenetic off-label therapy by Nailya R. Mingacheva, Aelita A. Kamalova, Nargis A. Artykova, Razilya F. Rakhmaeva, Gulnara I. Sageeva

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Attitudes of Maternal Fetal Medicine specialists on prenatal diagnosis, disability and termination by Aminah Sallam, Marina Gaeta Gazzola, Audrey A. Merriam, Mark Mercurio, Matthew J. Drago

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Hereditary Hemorrhagic Telangiectasia - a literature review by Marcel Stodolak, Aleksandra Krużel, Kamil Kłos, Piotr Sajdak, Justyna Tomasik, Marika Dębik, Łukasz Szydłowski, Klaudia Żurowska, Seweryn Ziajor, Artur Bednarski, Mikołaj Turski

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Intralipid infusion therapy as an adjunct treatment in women experiencing adenomyosis-related infertility by James Henshaw, Kelton Tremellen

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Factors that influence a patient's decision to engage in genetic research by Amal Almutairi, Fatimah Abdulrahman Alqubaishi, Ebtehal A. Alsolm, Albandari Binowayn, Rania Almohammad, Tariq Wani, Aljohara Ababtain, Udai Alkadi, May M. Alrashed, Malak Althagafi, Leen Abu-Safieh

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Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies by Paula Jorge, Elsa Garcia, Ana Gonçalves, Isabel Marques, Nuno Maia, Bárbara Rodrigues, Helena Santos, Jacinta Fonseca, Gabriela Soares, Cecília Correia, Margarida Reis-Lima, Vincenzo Cirigliano, Rosário Santos

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Exome and genome sequencing to unravel the precise breakpoints of partial trisomy 6q and partial Monosomy 2q by Shuang Zhang, Qianwei Cui, Shangying Yang, Fangxia Zhang, Chunxia Li, Xiaoguang Wang, Bo Lei, Xunlun Sheng

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Laboratory assessment of the risks of malignant neoplasms of the mammary gland and ovaries by А. В. Шумицький, О. А. Бурка, І. В. Сідорова

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A very early diagnosis of Alstrӧm syndrome by next generation sequencing by Leonardo Gatticchi, Jan Miertus, Paolo Enrico Maltese, Simone Bressan, Luca De Antoni, Ludmila Podracká, Lucia Piteková, Vanda Rísová, Mari Mällo, Kaie Jaakson, Kairit Joost, Leonardo Colombo, Matteo Bertelli

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