Search Results - "genetic testing"

Concurrent OPA1 mutation and chromosome 3q deletion leading to Behr syndrome: a case report by Ting Zeng, Linyan Liao, Yi Guo, Xuxu Liu, Xiaobo Xiong, Yu Zhang, Shi Cen, Honghui Li, Shuzhang Wei

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Information and Parental Consent for French Neonatal Screening: A Qualitative Study on Parental Opinion by Julia Pinel, Amandine Bellanger, Carole Jamet, Caroline Moreau

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Gaucher's Disease - current state of knowledge and future perspectives? by Katarzyna Szymańska, Julia Krasnoborska, Sylwia Samojedny, Maciej Superson, Katarzyna Szmyt, Kamil Walczak, Klaudia Wilk-Trytko, Łukasz Zarębski

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Isolated Fetal Ventriculomegaly: Diagnosis and Treatment in the Prenatal Period by Mateusz Zamłyński, Olena Zhemela, Anita Olejek

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The Prevalence of Different Genotypic Forms of Familial Hypercholesterolemia in Relation to Race and Ethnicity by Makhabbat Bekbossynova, Tatyana Ivanova-Razumova, Aknur Kali, Aliya Sailybayeva, Sadyk Khamitov, Zhansaya Oralbekova

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Drug Induced Hypersensitivity and the HLA Complex by Munir Pirmohamed, Ana Alfirevic

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INFANTILE CORTICAL HYPEROSTOSIS by Nika Morgan, Sara Bertok, Damjana Ključevšek, Karin Schara, Jana Lozar Krivec

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Peculiarities of Hemiplegic Migraine in Children by S. L. Moiseeva, C. Betzler, T. Herberholdt, G. Kluger, M. Staudt

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Persistent Hypertransaminasemia Uncovered Occult Limb-Girdle-Muscle Dystrophy-Type-2C in a Saudi Child by Naglaa M. Kamal, Hamed A. Alghamdi, Abdulrahman Halabi, Abdullah O. Alharbi, Muhammad Rafique, Kamel Abidi, Mortada H.H. El-Shabrawi, Ayman E. Eskander, Hala Mansour, Laila M. Sherief

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The rationality of using DNA diagnostics in sports cardiology by A. I. Kadykova, A. V. Zholinsky, R. V. Deev

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Case report: Echocardiographic diagnosis of cardiac involvement caused by congenital generalized lipodystrophy in an infant by Jie Zhou, Jie Zhou, Hanmin Liu, Hanmin Liu, Hanmin Liu, Hanmin Liu, Hanmin Liu, Jiao Chen, Jiao Chen, Jiao Chen, Xiaolan He, Xiaolan He

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Perinatal Management of Pregnancy Complicated by Autosomal Dominant Emery-Dreifuss Muscular Dystrophy by Megumi Sato, Hiromitsu Shirasawa, Kenichi Makino, Hiroshi Miura, Wataru Sato, Dai Shimizu, Naoki Sato, Jin Kumagai, Akira Sato, Yukihiro Terada

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A de novo ANK1 mutation in a childhood hereditary spherocytosis: a case report by Yafeng Wang, Linlin Liu, Dandan Liu, Wei Liu

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Diagnosis of Charcot-Marie-Tooth disease in a child with orbital rhabdomyosarcoma and vincristine-induced axonal polyneuropathy by F. Castellani, M. Cacciavillani, A. Salvalaggio, M.C. Affinita, G. Bisogno, C. Briani

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Genetics of Legg-Calvé-Perthes Disease: A Review Study by Mohammad Reza Sobhan, Nasim Namiranian, Samira Asadollahi, Hossein Neamatzadeh

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Prenatal presentation of a rare genetic disorder: a clinical, autopsy and molecular correlation by Veronica Arora, Sunita Bijarnia-Mahay, Samarth Kulshreshtra, Kanika Singh, Ratna Dua Puri, Ishwar Chandar Verma

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Potential of preimplantation genomic selection using the blastomere separation technique in bovine in vitro fertilized embryos by Takashi FUJII, Akira NAITO, Satoru MORIYASU, Soichi KAGEYAMA

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Advances in Diagnosis and Treatment of Inherited Kidney Diseases in Children by Guozhen Wang, Mengqiu Liao, Danny Junyi Tan, Xiangjun Chen, Ran Chao, Yifan Zhu, Pan Li, Yuelin Guan, Jianhua Mao, Lidan Hu

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Unmasking Evans syndrome: A rare presentation of Schimke immune-osseous dysplasia by Swathi Krishna, Purva Kanvinde, Ritika Khurana, Minnie Bodhanwala, Sangeeta Mudaliar

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Applications of laser technology in the manipulation of human spermatozoa by Yamei Xue, Yuping Xiong, Xiaohong Cheng, Kun Li

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