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	3141.	Mutations in DZIP1 and XYLT1 are associated with nonsyndromic early onset high myopia in the Korean population. [electronic resource] by Lee, Jong-Keuk Kim, Hyuna Park, Young-Mi Kim, Dae Hee Lim, Hyun Taek Producer: 20180326 In: Ophthalmic genetics vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3142.	A rare missense variant in RCL1 segregates with depression in extended families. [electronic resource] by Amin, N de Vrij, F M S Baghdadi, M Brouwer, R W W van Rooij, J G J Jovanova, O Uitterlinden, A G Hofman, A Janssen, H L A Darwish Murad, S Kraaij, R Stedehouder, J van den Hout, M C G N Kros, J M van IJcken, W F J Tiemeier, H Kushner, S A van Duijn, C M Producer: 20190327 In: Molecular psychiatry vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3143.	Germline [electronic resource] by Jouenne, Fanélie Chauvot de Beauchene, Isaure Bollaert, Emeline Avril, Marie-Françoise Caron, Olivier Ingster, Olivier Lecesne, Axel Benusiglio, Patrick Terrier, Philippe Caumette, Vincent Pissaloux, Daniel de la Fouchardière, Arnaud Cabaret, Odile N'Diaye, Birama Velghe, Amélie Bougeard, Gaelle Mann, Graham J Koscielny, Serge Barrett, Jennifer H Harland, Mark Newton-Bishop, Julia Gruis, Nelleke Van Doorn, Remco Gauthier-Villars, Marion Pierron, Gaelle Stoppa-Lyonnet, Dominique Coupier, Isabelle Guimbaud, Rosine Delnatte, Capucine Scoazec, Jean-Yves Eggermont, Alexander M Feunteun, Jean Tchertanov, Luba Demoulin, Jean-Baptiste Frebourg, Thierry Bressac-de Paillerets, Brigitte Producer: 20180430 In: Journal of medical genetics vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3144.	A novel missense mutation in BEST1 associated with an autosomal-dominant vitreoretinochoroidopathy (ADVIRC) phenotype. [electronic resource] by Mano, Fukutaro LoBue, Stephen A Olsen, Timothy W Marmorstein, Alan D Pulido, Jose S Producer: 20190412 In: Ophthalmic genetics vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3145.	Biallelic mutations in [electronic resource] by Yi, Zhen Ouyang, Jiamin Sun, Wenmin Xiao, Xueshan Li, Shiqiang Jia, Xiaoyun Wang, Panfeng Zhang, Qingjiong Producer: 20200603 In: Journal of medical genetics vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3146.	Stem Cell-Derived Neurons as Cellular Models of Sporadic Alzheimer's Disease. [electronic resource] by Foveau, Bénédicte Correia, Ana Sofia Hébert, Sébastien S Rainone, Sara Potvin, Olivier Kergoat, Marie-Jeanne Belleville, Sylvie Duchesne, Simon LeBlanc, Andréa C Producer: 20200529 In: Journal of Alzheimer's disease : JAD vol. 67 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3147.	Magnesium Restores Activity to Peripheral Blood Cells in a Patient With Functionally Impaired Interleukin-2-Inducible T Cell Kinase. [electronic resource] by Howe, Matthew K Dowdell, Kennichi Roy, Amitava Niemela, Julie E Wilson, Wyndham McElwee, Joshua J Hughes, Jason D Cohen, Jeffrey I Producer: 20201006 In: Frontiers in immunology vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3148.	Exome sequence analysis in consanguineous Pakistani families inheriting Bardet-Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene. [electronic resource] by Muzammal, Muhammad Zubair, Muhammad Bierbaumer, Sophie Blatterer, Jasmin Graf, Ricarda Gul, Aisha Abbas, Safdar Badar, Muhammad Abbasi, Ansar Ahmad Khan, Muzammil Ahmad Windpassinger, Christian Producer: 20200629 In: Molecular genetics & genomic medicine vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3149.	Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts. [electronic resource] by Frésard, Laure Smail, Craig Ferraro, Nicole M Teran, Nicole A Li, Xin Smith, Kevin S Bonner, Devon Kernohan, Kristin D Marwaha, Shruti Zappala, Zachary Balliu, Brunilda Davis, Joe R Liu, Boxiang Prybol, Cameron J Kohler, Jennefer N Zastrow, Diane B Reuter, Chloe M Fisk, Dianna G Grove, Megan E Davidson, Jean M Hartley, Taila Joshi, Ruchi Strober, Benjamin J Utiramerur, Sowmithri Lind, Lars Ingelsson, Erik Battle, Alexis Bejerano, Gill Bernstein, Jonathan A Ashley, Euan A Boycott, Kym M Merker, Jason D Wheeler, Matthew T Montgomery, Stephen B Producer: 20190715 In: Nature medicine vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3150.	Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy. [electronic resource] by Farhan, Sali M K Nixon, Kevin C J Everest, Michelle Edwards, Tara N Long, Shirley Segal, Dmitri Knip, Maria J Arts, Heleen H Chakrabarti, Rana Wang, Jian Robinson, John F Lee, Donald Mirsattari, Seyed M Rupar, C Anthony Siu, Victoria M Poulter, Michael O Hegele, Robert A Kramer, Jamie M Producer: 20180321 In: Human molecular genetics vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3151.	Comprehensive molecular biomarker identification in breast cancer brain metastases. [electronic resource] by Schulten, Hans-Juergen Bangash, Mohammed Karim, Sajjad Dallol, Ashraf Hussein, Deema Merdad, Adnan Al-Thoubaity, Fatma K Al-Maghrabi, Jaudah Jamal, Awatif Al-Ghamdi, Fahad Choudhry, Hani Baeesa, Saleh S Chaudhary, Adeel G Al-Qahtani, Mohammed H Producer: 20190708 In: Journal of translational medicine vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3152.	A novel de novo activating mutation in STAT3 identified in a patient with common variable immunodeficiency (CVID). [electronic resource] by Russell, Mark A Pigors, Manuela Houssen, Maha E Manson, Ania Kelsell, David Longhurst, Hilary Morgan, Noel G Producer: 20190318 In: Clinical immunology (Orlando, Fla.) vol. 187 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3153.	Whole-exome sequencing identifies a Novel SCN5A mutation (C335R) in a Chinese family with arrhythmia. [electronic resource] by Huang, Hao Ding, Dong-Bo Fan, Liang-Liang Jin, Jie-Yuan Li, Jing-Jing Guo, Shuai Chen, Ya-Qin Xiang, Rong Producer: 20180910 In: Cardiology in the young vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3154.	Complement activation assessed by the plasma terminal complement complex and future risk of venous thromboembolism. [electronic resource] by Høiland, Ina I Liang, Robin A Braekkan, Sigrid K Pettersen, Kristin Ludviksen, Judith K Latysheva, Nadezhda Snir, Omri Ueland, Thor Hindberg, Kristian Mollnes, Tom E Hansen, John-Bjarne Producer: 20200630 In: Journal of thrombosis and haemostasis : JTH vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3155.	Clinical Targeted Next-Generation sequencing Panels for Detection of Somatic Variants in Gliomas. [electronic resource] by Shin, Hyemi Sa, Jason K Bae, Joon Seol Koo, Harim Jin, Seonwhee Cho, Hee Jin Choi, Seung Won Kyoung, Jong Min Kim, Ja Yeon Seo, Yun Jee Joung, Je-Gun Kim, Nayoung K D Son, Dae-Soon Chung, Jongsuk Lee, Taeseob Kong, Doo-Sik Choi, Jung Won Seol, Ho Jun Lee, Jung-Il Suh, Yeon-Lim Park, Woong-Yang Nam, Do-Hyun Producer: 20200908 In: Cancer research and treatment vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3156.	A Non-interventional Clinical Trial Assessing Immune Responses After Radiofrequency Ablation of Liver Metastases From Colorectal Cancer. [electronic resource] by Löffler, Markus W Nussbaum, Bianca Jäger, Günter Jurmeister, Philipp S Budczies, Jan Pereira, Philippe L Clasen, Stephan Kowalewski, Daniel J Mühlenbruch, Lena Königsrainer, Ingmar Beckert, Stefan Ladurner, Ruth Wagner, Silvia Bullinger, Florian Gross, Thorben H Schroeder, Christopher Sipos, Bence Königsrainer, Alfred Stevanović, Stefan Denkert, Carsten Rammensee, Hans-Georg Gouttefangeas, Cécile Haen, Sebastian P Producer: 20201109 In: Frontiers in immunology vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3157.	The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants. [electronic resource] by Rio-Machin, Ana Vulliamy, Tom Hug, Nele Walne, Amanda Tawana, Kiran Cardoso, Shirleny Ellison, Alicia Pontikos, Nikolas Wang, Jun Tummala, Hemanth Al Seraihi, Ahad Fahad H Alnajar, Jenna Bewicke-Copley, Findlay Armes, Hannah Barnett, Michael Bloor, Adrian Bödör, Csaba Bowen, David Fenaux, Pierre Green, Andrew Hallahan, Andrew Hjorth-Hansen, Henrik Hossain, Upal Killick, Sally Lawson, Sarah Layton, Mark Male, Alison M Marsh, Judith Mehta, Priyanka Mous, Rogier Nomdedéu, Josep F Owen, Carolyn Pavlu, Jiri Payne, Elspeth M Protheroe, Rachel E Preudhomme, Claude Pujol-Moix, Nuria Renneville, Aline Russell, Nigel Saggar, Anand Sciuccati, Gabriela Taussig, David Toze, Cynthia L Uyttebroeck, Anne Vandenberghe, Peter Schlegelberger, Brigitte Ripperger, Tim Steinemann, Doris Wu, John Mason, Joanne Page, Paula Akiki, Susanna Reay, Kim Cavenagh, Jamie D Plagnol, Vincent Caceres, Javier F Fitzgibbon, Jude Dokal, Inderjeet Producer: 20200522 In: Nature communications vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3158.	In-depth mutational analyses of colorectal neuroendocrine carcinomas with adenoma or adenocarcinoma components. [electronic resource] by Woischke, Christine Schaaf, Christian W Yang, Hui-Min Vieth, Michael Veits, Lothar Geddert, Helene Märkl, Bruno Stömmer, Peter Schaeffer, David F Frölich, Matthias Blum, Helmut Vosberg, Sebastian Greif, Philipp A Jung, Andreas Kirchner, Thomas Horst, David Producer: 20180222 In: Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3159.	The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects. [electronic resource] by Blauwendraat, Cornelis Wilke, Carlo Simón-Sánchez, Javier Jansen, Iris E Reifschneider, Anika Capell, Anja Haass, Christian Castillo-Lizardo, Melissa Biskup, Saskia Maetzler, Walter Rizzu, Patrizia Heutink, Peter Synofzik, Matthis Producer: 20180926 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3160.	Divergent susceptibilities to AAV-SaCas9-gRNA vector-mediated genome-editing in a single-cell-derived cell population. [electronic resource] by Morsy, Salma G Tonne, Jason M Zhu, Yaxi Lu, Brian Budzik, Karol Krempski, James W Ali, Sherine A El-Feky, Mohamed A Ikeda, Yasuhiro Producer: 20180723 In: BMC research notes vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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