Zoekresultaten - "monogenism"

Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report door Rita Maria Alves, Paolo Uva, Marielza F. Veiga, Manuela Oppo, Fabiana C. R. Zschaber, Giampiero Porcu, Henrique P. Porto, Ivana Persico, Stefano Onano, Gianmauro Cuccuru, Rossano Atzeni, Lauro C. N. Vieira, Marcos V. A. Pires, Francesco Cucca, Maria Betânia P. Toralles, Andrea Angius, Laura Crisponi

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Clinical and Basic Aspects of Neurofibromatosis Type 1

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Non-alcoholic Fatty Liver Disease New Insight and Glance Into Disease Pathogenesis

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New Insights and Advances in Pathogenesis and Treatment of Very Early Onset Inflammatory Bowel Disease door Qi-Qi Li, Hui-Hong Zhang, Shi-Xue Dai, Shi-Xue Dai, Shi-Xue Dai

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Preimplantation genetic testing for familial amyloid polyneuropathy door Mário Sousa

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Sickle cell anemia: An update on diagnosis, management and prevention strategies door Shruti Mishra, Gaurav Chhabra

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Newborn Genetic Screening-Still a Role for Sanger Sequencing in the Era of NGS door Silje Hogner, Emma Lundman, Janne Strand, Mari Eknes Ytre-Arne, Trine Tangeraas, Asbjørg Stray-Pedersen

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CONGENITAL ADRENAL CORTEX HYPERPLASIA IN A NEWBORN (CLINICAL CASE) door N.M. Kretsu, L.V Kolyubakina, T.N. Kretsu, L.F. Balytska

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Modeling blood diseases with human induced pluripotent stem cells door Maria Georgomanoli, Eirini P. Papapetrou

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Neonatal Diabetes door Shawn Sood MD, Hannah Landreth BA, Jessee Bustinza DO, Laura Chalmers MD, Roopa Thukaram MD

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Current issues of pediatric inflammatory bowel disease in Korea door Seak Hee Oh, Kyung Mo Kim

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Pustular Psoriasis: The Dawn of a New Era door Hervez Bachelez

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Gene therapy for oral squamous cell carcinoma: An overview door Saraswathi T, Kavitha B, Vijayashree Priyadharsini J

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CLINICAL CASE OF BIOTINIDASE INSUFFICIENCY IN A CHILD OF AN EARLY AGE door Галина Юрьевна Галиева, Ирина Фаисовна Федосеева, Татьяна Юрьевна Бедарева, Елена Николаевна Урбан

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The burden of thalassemia in Punjab: A roadmap forward door Amrith Mathew, Praveen C. Sobti

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Genes involved in the development of Parkinson door Diana Teixeira, Inês Lopes Cardoso

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A heterozygous missense mutation of CARD14 gene in a case of Netherton-Like syndrome door Surya Ravindran, Sebastian Criton, Divya Surendran

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Microarrays. The bridges in the knowledge of mental retardarion diagnosed in childhood door Márquez González Horacio, Márquez Flores Horacio, Camarillo Blancarte Leyla

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Genetically engineered animal models for Marfan syndrome: challenges associated with the generation of pig models for diseases caused by haploinsufficiency door Naomi JACK, Tomoyuki MUTO, Keigo IEMITSU, Tamaki WATANABE, Kazuhiro UMEYAMA, Jun OHGANE, Hiroshi NAGASHIMA

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DIFFERENTIAL DIAGNOSIS OF HEREDITARY SYNDROME OF HYPOCHOLESTEROLEMIA BY USING EXOMIC SEQUENCING door A. I. Yershova, N. V. Shcherbakova, A. A. Suvorova, E. Y. Hlebus, I. V. Sidonets, A. N. Meshkov, S. A. Boytsov

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