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by Dunning, Alison and Michailidou, Kyriaki and Kuchenbaecker, Karoline and Thompson, Deborah and French, Juliet and Beesley, Jonathan and Healey, Sue and Kar, Siddhartha and Pooley, Karen and Lopez-Knowles, Elena and Dicks, Ed and Barrowdale, Daniel and Sinnott-Armstrong, Nicholas A and Sallari, Richard C and Hillman, Kristine and Kaufmann, Susanne and Sivakumaran, Haran and Marjaneh, Mahdi Moradi and Lee, Jason S and Hills, Margaret and Jarosz, Monika and ry, Suzie and Canisius, Sander and KBolla, Manjeet and Dennis, Joe and Wang, Qin and LHopper, John and Southey, Mellissa C and Broeks, Annegien and Schmidt, Marjanka K and Lophatananon, Artitaya and Muir, K and Beckmann, Matthias W and Fasching, Peter and Santos Silva, Isabel and Peto, Julian and Sawyer, Elinor and Tomlinson, Ian and Burwinkel, Barbara and Marme, Federick and Guénel, Pascal and Truong, Thérèse and Bojesen, Stig and Flyger, Henrik and Gonzlez-Neira, Anna and Perez, Jose I.A and Anton-Culver, Hoda and Eunjung, Lee and Arndt, Volker and Brenner, Hermann and Meindl, Alfons and Schmutzler, Rita and Brauch, Hiltrud and Hamann, Ute and Aittomki, Kristiina and Blomqvist, Carl and Ito, Hidemi and Matsuo, Keitaro and Bogdanova, Natalia and Dörk, Thilo and Lindblom, Annika and Margolin, Sara and Kosma, Veli-Matti and Mannermaa, Arto and Tseng, Chiu-Chen and Wu, Anna and Lambrechts, Diether and Wildiers, Hans and Chang-Claude, Jenny and Rudolph, Anja and Peterlongo, Paolo and Radice, Paolo and EOlson, Janet and GGiles, Graham and Milne, Roger L and Haiman, Christopher A and Henderson, Brian and Goldberg, Mark and Teo, Soo Hwang and Yip, Cheng Har and Nord, Silje and Borresen-Dale, Anne-Lise and Kristensen, Vessela and Long, Jirong and Zheng, Wei and Pylks, Katri and Winqvist, Robert and Anulis, Irene and Knight, Julia A and Devilee, Peter and Seynaeve, Caroline and Figueroa, Jonine and Sherman, Mark and Czene, Kamila and Darabi, Hatef and Hollestelle, Antoinette and Ouweland, Ans and Humphreys, Keith and Gao, Yu-Tang and Shu, Xiao-Ou and ... and KConFab Investigators and HEBON and EMBRACE and GEMO Study Collaborators and kConFab Investigators and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för immunologi, genetik och patologi and Uppsala universitet
Nature Genetics, ISSN 1061-4036, 03/2016, Volume 48, Issue 4, pp. 374 - 386
Journal Article
Journal Article
International Journal of Pediatric Otorhinolaryngology, ISSN 0165-5876, 01/2018, Volume 104, pp. 134 - 137
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 03/2018, Volume 63, Issue 3, pp. 349 - 356
Cornelia de Lange syndrome (CdLS) is a rare neurodevelopmental syndrome for which mutations in five causative genes that encode (SMC1A, SMC3, RAD21) or... 
MILD | MUTATIONS CAUSE | NIPBL | MECHANISM | GENOMIC DISORDERS | DNA | GENETICS & HEREDITY | SPECTRUM | REARRANGEMENTS | VARIANT | MOSAICISM
Journal Article
Journal of Clinical Oncology, ISSN 0732-183X, 07/2016, Volume 34, Issue 19, pp. 2206 - 2211
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 06/2018, pp. 1 - 10
The clinical significance of combined malonic and methylmalonic aciduria due to ACSF3 deficiency (CMAMMA) is controversial. In most publications, affected... 
Urine | Creatinine | Neonates | Genotyping | Benign | Aciduria | Environmental factors | Mutation | Medical screening | Patients
Journal Article
International Journal of Pediatric Otorhinolaryngology, ISSN 0165-5876, 07/2019, Volume 122, pp. 138 - 140
Bardet-Biedl syndrome (BBS) is a rare autosomal-recessive disease characterized by rod-cone dystrophy, obesity, postaxial polydactyly, cognitive impairment,... 
Ciliopathy | Bardet-Biedl syndrome | Bifid epiglottis | Laryngeal web | PEDIATRICS | OTORHINOLARYNGOLOGY | Equipment and supplies | Genetic disorders | Health aspects | Medical genetics | Fiber optics
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 11/2015, Volume 52, Issue Suppl 1, pp. A5 - A6
BackgroundThe frequency of small supernumerary chromosomal markers (sSCM) are estimated to be ˜0.03–0.15% and are not necessarily always associated with... 
Journal Article
Journal of Cardiovascular Electrophysiology, ISSN 1045-3873, 11/2016, Volume 27, Issue 11, pp. 1264 - 1270
Molecular Sub‐Phenotypes of Atrial Fibrillation Introduction Genome wide association studies have identified several single nucleotide polymorphisms (SNPs)... 
atrial fibrillation | fibrosis | genetics | inflammation | CARDIAC & CARDIOVASCULAR SYSTEMS | IMPACT | PERICARDITIS | RISK-FACTOR | SUBSTRATE | DISEASE | MUTATION | CATHETER ABLATION | PACEMAKER CHANNEL | Phenotype | Analysis | Atrial fibrillation | Genetic research | Genetic aspects | Inflammation | Single nucleotide polymorphisms | Chromosomes | Histology | Regression analysis | Polymorphism
Journal Article
by Rebbeck, Timothy R and Mitra, Nandita and Wan, Fei and Sinilnikova, Olga M and Healey, Sue and McGuffog, Lesley and Mazoyer, Sylvie and Chenevix-Trench, Georgia and Easton, Douglas F and Antoniou, Antonis C and Nathanson, Katherine L and Laitman, Yael and Kushnir, Anya and Paluch-Shimon, Shani and Berger, Raanan and Zidan, Jamal and Friedman, Eitan and Ehrencrona, Hans and Stenmark-Askmalm, Marie and Einbeigi, Zakaria and Loman, Niklas and Harbst, Katja and Rantala, Johanna and Melin, Beatrice and Huo, Dezheng and Olopade, Olufunmilayo I and Seldon, Joyce and Ganz, Patricia A and Nussbaum, Robert L and Chan, Salina B and Odunsi, Kunle and Gayther, Simon A and Domchek, Susan M and Arun, Banu K and Lu, Karen H and Mitchell, Gillian and Karlan, Beth Y and Walsh, Christine and Lester, Jenny and Godwin, Andrew K and Pathak, Harsh and Ross, Eric and Daly, Mary B and Whittemore, Alice S and John, Esther M and Miron, Alexander and Terry, Mary Beth and Chung, Wendy K and Goldgar, David E and Buys, Saundra S and Janavicius, Ramunas and Tihomirova, Laima and Tung, Nadine and Dorfling, Cecilia M and van Rensburg, Elizabeth J and Steele, Linda and Neuhausen, Susan L and Ding, Yuan Chun and Ejlertsen, Bent and Gerdes, Anne-Marie and Hansen, Thomas v. O and Ramón y Cajal, Teresa and Osorio, Ana and Benitez, Javier and Godino, Javier and Tejada, Maria-Isabel and Duran, Mercedes and Weitzel, Jeffrey N and Bobolis, Kristie A and Sand, Sharon R and Fontaine, Annette and Savarese, Antonella and Pasini, Barbara and Peissel, Bernard and Bonanni, Bernardo and Zaffaroni, Daniela and Vignolo-Lutati, Francesca and Scuvera, Giulietta and Giannini, Giuseppe and Bernard, Loris and Genuardi, Maurizio and Radice, Paolo and Dolcetti, Riccardo and Manoukian, Siranoush and Pensotti, Valeria and Gismondi, Viviana and Yannoukakos, Drakoulis and Fostira, Florentia and Garber, Judy and Torres, Diana and Rashid, Muhammad Usman and Hamann, Ute and Peock, Susan and Frost, Debra and Platte, Radka and Evans, D. Gareth and Eeles, Rosalind and Davidson, Rosemarie and Eccles, Diana and Cole, Trevor and ... and CIMBA Consortium and Lund University and Division of Clinical Genetics and BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation and Avdelningen för klinisk genetik and Lunds universitet
JAMA, ISSN 0098-7484, 04/2015, Volume 313, Issue 13, pp. 1347 - 1361
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 04/2012, Volume 90, Issue 4, pp. 693 - 700
Journal Article
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 03/2018, Volume 14, Issue C, pp. 55 - 58
A high level of succinylacetone (SA) in blood is a sensitive, specific marker for the screening and diagnosis of hepatorenal tyrosinemia (HT1, MIM ). HT1 is... 
Tyrosinemia | Fumarylacetoacetate hydrolase | Hypersuccinylacetonemia | Pseudodeficiency | Fah | Nitisinone | GENE | TYROSINEMIA TYPE-I | MUTATION | GENETICS & HEREDITY | HEREDITARY TYROSINEMIA | HEPATORENAL TYROSINEMIA
Journal Article