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181by Mendoza-Alvarez, Alejandro, Muñoz-Barrera, Adrián, Rubio-Rodríguez, Luis Alberto, Marcelino-Rodriguez, Itahisa, Corrales, Almudena, Iñigo-Campos, Antonio, Callero, Ariel, Perez-Rodriguez, Eva, Garcia-Robaina, Jose Carlos, González-Montelongo, Rafaela, Lorenzo-Salazar, Jose Miguel, Flores, Carlos“... BackgroundHereditary angioedema is a rare genetic condition caused by C1...”
Published 2020-10-01
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182“...Sickle cell disease, despite its recognition as a severely debilitating genetic condition affecting...”
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184“...Brugada Syndrome (BrS) is a genetic condition associated with ventricular fibrillation and sudden...”
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185“... genetic condition caused by mutations in OFD1 and associated with cilia dysfunction, display excessive...”
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186“..., an extremely rare genetic condition affecting the TCA cycle, with just over 40 cases reported, worldwide till...”
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187by Magdalena Czajkowska, Łukasz Dawidowicz, Anetta Borkowska, Izabela Dziekańska, Marcin Sielezniew“... direction, which may also contribute to a better genetic condition of the western population. Finally, a...”
Published 2020-09-01
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188by Tran Van Thuan, Nguyen Van Chu, Pham Hong Khoa, Nguyen Tien Quang, Dao Van Tu, Nguyen Thi Quynh Tho, Phung Thi Huyen, Bui Hai Ha, Pham Thi Han, Duong Minh Long, Bach Thi Hoai Phuong“...Hereditary breast cancer is an inherited genetic condition, mainly caused by BRCA1 and BRCA2 gene...”
Published 2020-01-01
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189by Deepti Singh, Pierre C. Dromel, Tatiana Perepelkina, Petr Baranov, Michael Young“... in children with a genetic condition called neurofibromatosis type 1 (NF1), causing tumors to grow on nerves...”
Published 2020-12-01
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190by Manogari Chetty, Tina Sharon Roberts, Mona Elmubarak, Heidre Bezuidenhout, Liani Smit, Mike Urban“...Abstract Background CHARGE syndrome (CS) is a rare genetic condition (OMIM #214800). The condition...”
Published 2020-05-01
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191“... accepted ontology is very important especially in case of rare genetic conditions and the heterogeneous...”
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192“...Partial deletion of chromosome 21q is a very rare genetic condition with highly variable phenotypic...”
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193by Olga Tšuiko, Tuuli Dmitrijeva, Katrin Kask, Pille Tammur, Neeme Tõnisson, Andres Salumets, Tatjana Jatsenko“... fertilization (IVF) treatment coupled with PGT-A following two consecutive miscarriages, unaware of her genetic...”
Published 2019-06-01
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194“... a miscarriage or for having a child with a serious genetic condition. Based on international...”
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195by Jean-François Schmouth, Russell J Bonaguro, Ximena Corso-Diaz, Elizabeth M Simpson“... human disease variants; e.g., the complex genetic condition arising from Down syndrome, common monogenic...”
Published 2012-01-01
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196“..., Plainsboro, NJ, USA Background: Noonan syndrome (NS) is an autosomal dominant genetic condition that has a...”
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197“... that sickle cell is a genetic condition; 87.5% of the respondents highlighted that it is important for people...”
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198by Mellody I. Cooiman, Lotte Kleinendorst, Bert van derZwaag, Ignace M. C. Janssen, Frits J. Berends, Mieke M. van Haelst“.... Conclusion Our patient illustrates the importance of recognizing this serious genetic condition for which...”
Published 2019-06-01
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199“...<p>Abstract</p> <p>Introduction</p> <p>Smith-Magenis syndrome is a rare genetic condition...”
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200by Olga Grechukhina, Gregory M. Gressel, William Munday, Serena Wong, Alessandro Santin, Alla Vash-Margita“...Background. Bardet-Biedl Syndrome (BBS) is a rare genetic condition characterized by cognitive...”
Published 2018-01-01
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