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1 |
Material Type: Article
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Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic CardiomyopathyBagnall, Richard D. ; Ingles, Jodie ; Dinger, Marcel E. ; Cowley, Mark J. ; Ross, Samantha Barratt ; Minoche, André E. ; Lal, Sean ; Turner, Christian ; Colley, Alison ; Rajagopalan, Sulekha ; Berman, Yemima ; Ronan, Anne ; Fatkin, Diane ; Semsarian, ChristopherJournal of the American College of Cardiology, 2018-07, Vol.72 (4), p.419-429 [Peer Reviewed Journal]United States: Elsevier IncFull text available |
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Material Type: Article
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What is the right sequencing approach? Solo VS extended family analysis in consanguineous populationsAlfares, Ahmed ; Alsubaie, Lamia ; Aloraini, Taghrid ; Alaskar, Aljoharah ; Althagafi, Azza ; Alahmad, Ahmed ; Rashid, Mamoon ; Alswaid, Abdulrahman ; Alothaim, Ali ; Eyaid, Wafaa ; Ababneh, Faroug ; Albalwi, Mohammed ; Alotaibi, Raniah ; Almutairi, Mashael ; Altharawi, Nouf ; Alsamer, Alhanouf ; Abdelhakim, Marwa ; Kafkas, Senay ; Mineta, Katsuhiko ; Cheung, Nicole ; Abdallah, Abdallah M ; Büchmann-Møller, Stine ; Fukasawa, Yoshinori ; Zhao, Xiang ; Rajan, Issaac ; Hoehndorf, Robert ; Al Mutairi, Fuad ; Gojobori, Takashi ; Alfadhel, MajidBMC medical genomics, 2020-07, Vol.13 (1), p.103-8, Article 103 [Peer Reviewed Journal]England: BioMed Central LtdFull text available |
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Material Type: Article
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Step-up empiric elimination diet for pediatric and adult eosinophilic esophagitis: The 2-4-6 studyMolina-Infante, Javier ; Arias, Ángel ; Alcedo, Javier ; Garcia-Romero, Ruth ; Casabona-Frances, Sergio ; Prieto-Garcia, Alicia ; Modolell, Ines ; Gonzalez-Cordero, Pedro L. ; Perez-Martinez, Isabel ; Martin-Lorente, Jose Luis ; Guarner-Argente, Carlos ; Masiques, Maria L. ; Vila-Miravet, Victor ; Garcia-Puig, Roger ; Savarino, Edoardo ; Sanchez-Vegazo, Carlos Teruel ; Santander, Cecilio ; Lucendo, Alfredo J.Journal of allergy and clinical immunology, 2018-04, Vol.141 (4), p.1365-1372 [Peer Reviewed Journal]United States: Elsevier IncFull text available |
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Material Type: Article
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Trends in Chronic Kidney Disease in ChinaZhang, Luxia ; Long, Jianyan ; Jiang, Wenshi ; Shi, Ying ; He, Xiangxiang ; Zhou, Zhiye ; Li, Yanwei ; Yeung, Roseanne O ; Wang, Jinwei ; Matsushita, Kunihiro ; Coresh, Josef ; Zhao, Ming-Hui ; Wang, HaiboThe New England journal of medicine, 2016-09, Vol.375 (9), p.905-906 [Peer Reviewed Journal]United States: Massachusetts Medical SocietyFull text available |
5 |
Material Type: Article
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Clinical impact of genomic testing in patients with suspected monogenic kidney diseaseJayasinghe, Kushani ; Stark, Zornitza ; Kerr, Peter G. ; Gaff, Clara ; Martyn, Melissa ; Whitlam, John ; Creighton, Belinda ; Donaldson, Elizabeth ; Hunter, Matthew ; Jarmolowicz, Anna ; Johnstone, Lilian ; Krzesinski, Emma ; Lunke, Sebastian ; Lynch, Elly ; Nicholls, Kathleen ; Patel, Chirag ; Prawer, Yael ; Ryan, Jessica ; See, Emily J. ; Talbot, Andrew ; Trainer, Alison ; Tytherleigh, Rigan ; Valente, Giulia ; Wallis, Mathew ; Wardrop, Louise ; West, Kirsty H. ; White, Susan M. ; Wilkins, Ella ; Mallett, Andrew J. ; Quinlan, CatherineGenetics in medicine, 2021-01, Vol.23 (1), p.183-191 [Peer Reviewed Journal]United States: Elsevier IncNo full-text |
6 |
Material Type: Article
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Return to play with hypertrophic cardiomyopathy: are we moving too fast? A critical reviewDrezner, Jonathan A ; Malhotra, Aneil ; Prutkin, Jordan M ; Papadakis, Michael ; Harmon, Kimberly G ; Asif, Irfan M ; Owens, David S ; Marek, Joseph C ; Sharma, SanjayBritish journal of sports medicine, 2021-09, Vol.55 (18), p.1041-1048 [Peer Reviewed Journal]England: BMJ Publishing Group Ltd and British Association of Sport and Exercise MedicineFull text available |
7 |
Material Type: Article
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Coeliac disease: making the diagnosisBeattie, R Mark ; Batra, AkshayArchives of disease in childhood, 2022-06, Vol.107 (6), p.536-537 [Peer Reviewed Journal]England: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child HealthFull text available |
8 |
Material Type: Article
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Cascade screening for glaucoma in high-risk family members of African-Caribbean glaucoma patients in an urban population in LondonNagar, Anindyt ; Myers, Sam ; Kozareva, Diana ; Simcoe, Mark ; Hammond, ChristopherBritish journal of ophthalmology, 2022-03, Vol.106 (3), p.376-380 [Peer Reviewed Journal]BMA House, Tavistock Square, London, WC1H 9JR: BMJ Publishing Group LtdFull text available |
9 |
Material Type: Article
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Are population level familial risks and germline genetics meeting each other?Hemminki, Kari ; Li, Xinjun ; Försti, Asta ; Eng, CharisHereditary cancer in clinical practice, 2023-03, Vol.21 (1), p.3-3, Article 3 [Peer Reviewed Journal]Poland: BioMed Central LtdFull text available |
10 |
Material Type: Article
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Frequency of hematologic and solid malignancies in the family history of 50 patients with acute myeloid leukemia - a single center analysisSandner, Anne-Sophie ; Weggel, Ramona ; Mehraein, Yasmin ; Schneider, Stephanie ; Hiddemann, Wolfgang ; Spiekermann, Karsten Toland, Amanda EwartPloS one, 2019-04, Vol.14 (4), p.e0215453-e0215453 [Peer Reviewed Journal]United States: Public Library of ScienceFull text available |