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281by Ebony Richardson, Alison McEwen, Toby Newton-John, Karine Manera, Chris Jacobs“... with a severe genetic condition. There is a lack of consensus for ‘what to measure’ in studies...”
Published 2021-07-01
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282by Jinkuk Hong, Leann DaWalt, Mei Wang Baker, Elizabeth M. Berry-Kravis, Marsha R. Mailick“... rare genetic condition (such as fragile X syndrome) can be used to probe genotype-phenotype...”
Published 2021-08-01
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283by Thomas Michael Zahradnik, Mark Cresswell, Kip Squier, Charlotte Waugh, Liam Brunham, Hazel Screen, Alex Scott“...Abstract Background Familial hypercholesterolemia is a genetic condition characterized by life-long...”
Published 2021-07-01
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284by Meng-Che Tsai, Meng-Che Tsai, Yen-Yin Chou, Chia-Yi Li, Yi-Chieh Wang, Hui-Wen Yu, Chia-Hsiang Chen, Peng-Chieh Chen, Peng-Chieh Chen“...Collagenopathy is a rare genetic condition characterized by abnormality in either collagen...”
Published 2021-07-01
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285by Teresa M. Kohlenberg, M. Pilar Trelles, Brittany McLarney, Catalina Betancur, Audrey Thurm, Alexander Kolevzon“...Abstract Background Phelan-McDermid syndrome (PMS) is a genetic condition characterized...”
Published 2020-02-01
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286by Anna Maria Caroleo, Maria Antonietta De Ioris, Luigi Boccuto, Luigi Boccuto, Iside Alessi, Giada Del Baldo, Antonella Cacchione, Emanuele Agolini, Martina Rinelli, Annalisa Serra, Andrea Carai, Angela Mastronuzzi“...DICER1 syndrome is a rare genetic condition predisposing to hereditary cancer and caused...”
Published 2021-01-01
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287“... decarboxylase (AADC) deficiency is a rare genetic condition, characterised by movement disorder, and speech...”
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288“... were found to have another genetic condition. Conclusions This retrospective study reveals significant...”
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289by Kathryn R. Brewer, Kathryn R. Brewer, Georg Kuenze, Georg Kuenze, Carlos G. Vanoye, Alfred L. George, Jens Meiler, Jens Meiler, Jens Meiler, Jens Meiler, Charles R. Sanders, Charles R. Sanders“... syndrome (LQTS), a genetic condition that predisposes to cardiac arrhythmia and sudden cardiac death due...”
Published 2020-05-01
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290by Kate Mowrey, Mary Kay Koenig, Charles A. Szabo, Joshua Samuels, Shannon Mulligan, Deborah A. Pearson, Hope Northrup“...Abstract Background Tuberous sclerosis complex (TSC) is an autosomal dominant genetic condition...”
Published 2020-07-01
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291by Ardak Zhumagaliyeva, Stefania Ottaviani, Timm Greulich, Marina Gorrini, Claus Vogelmeier, Ludmila Karazhanova, Gulmira Nurgazina, Annalisa DeSilvestri, Victor Kotke, Valentina Barzon, Michele Zorzetto, Angelo Corsico, Ilaria Ferrarotti“... about this genetic condition....”
Published 2017-10-01
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292“...Background: Fabry disease, an X-linked genetic condition, results from alpha-galactosidase...”
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293by Fourie, Chantel Lynette“... with Fragile X Syndrome. Fragile X Syndrome can be defined as an inherited (genetic) condition that causes...”
Published 2014
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294by Fourie, Chantel Lynette“... with Fragile X Syndrome. Fragile X Syndrome can be defined as an inherited (genetic) condition that causes...”
Published 2014
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295by Dayse Mota Rosa Pinto, Marvyn de Santana do Sacramento, Pedro Henrique Silva Santos, Wasly Santana Silva, Edna Conceição de Oliveira, Giulliano Gardenghi, Ana Marice Teixeira Ladeia, Jefferson Petto“...Introduction and objective: Sickle cell anemia (SCA) is a genetic condition that alters...”
Published 2021-07-01
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296by Barke, J.“...Neurofibromatosis type 1 (NF1) is a genetic condition which can result in varying degrees...”
Published 2014
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297by Mohd Noor, M.“.... Amelogenesis Imperfecta (AI) is genetic condition, affecting the structure and clinical appearance...”
Published 2014
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298by Corry, Kylie A.“... of proteins. Recently, a genetic condition called Job’s Syndrome has been specifically linked to point...”
Published 2016
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299by Edna Grünblatt, Beatrice Oneda, Arif B. Ekici, Juliane Ball, Julia Geissler, Steffen Uebe, Marcel Romanos, Anita Rauch, Susanne Walitza“... person has uncontrollable, reoccurring thoughts and behaviours. It is a complex genetic condition...”
Published 2017-11-01
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300by Daniela Guelho, MD, Daniela Stefania Trifu, MD, Treena Cranston, BSc, DipRCPath, Colin Forfar, MD, PhD, Niki Karavitaki, PhD, FRCP, Ashley B. Grossman, MD; FMedSci“...% of these tumors are related to an underlying genetic condition. Many of the hereditary paragangliomas...”
Published 2015-01-01
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