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	21.	ClinVar data parsing. [electronic resource] by Zhang, Xiaolei Minikel, Eric V O'Donnell-Luria, Anne H MacArthur, Daniel G Ware, James S Weisburd, Ben Publication details: Wellcome open research 2017 In: Wellcome open research vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	22.	Skin inflammation in RelB(-/-) mice leads to defective immunity and impaired clearance of vaccinia virus. [electronic resource] by Freyschmidt, Eva-Jasmin Mathias, Clinton B MacArthur, Daniel H Laouar, Amale Narasimhaswamy, Manjunath Weih, Falk Oettgen, Hans C Producer: 20070412 In: The Journal of allergy and clinical immunology vol. 119 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	23.	ACTN3 genotype is associated with human elite athletic performance. [electronic resource] by Yang, Nan MacArthur, Daniel G Gulbin, Jason P Hahn, Allan G Beggs, Alan H Easteal, Simon North, Kathryn Producer: 20031007 In: American journal of human genetics vol. 73 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	24.	Mutations in eIF4ENIF1 are associated with primary ovarian insufficiency. [electronic resource] by Kasippillai, Thushiga MacArthur, Daniel G Kirby, Andrew Thomas, Brett Lambalk, Cornelius B Daly, Mark J Welt, Corrine K Producer: 20131108 In: The Journal of clinical endocrinology and metabolism vol. 98 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	25.	Gene inactivation and its implications for annotation in the era of personal genomics. [electronic resource] by Balasubramanian, Suganthi Habegger, Lukas Frankish, Adam MacArthur, Daniel G Harte, Rachel Tyler-Smith, Chris Harrow, Jennifer Gerstein, Mark Producer: 20110125 In: Genes & development vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	26.	Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease. [electronic resource] by Menezes, Manoj P Waddell, Leigh Lenk, Guy M Kaur, Simranpreet MacArthur, Daniel G Meisler, Miriam H Clarke, Nigel F Producer: 20150302 In: Neuromuscular disorders : NMD vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	27.	Response. [electronic resource] by Menezes, Manoj P Waddell, Leigh Lenk, Guy M Kaur, Simranpreet MacArthur, Daniel G Meisler, Miriam H Clarke, Nigel F Producer: 20150514 In: Neuromuscular disorders : NMD vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	28.	Intraperitoneal stability of alginate-polyornithine microcapsules in rats: an FTIR and SEM analysis. [electronic resource] by Thanos, Christopher G Bintz, Briannan E Bell, William J Qian, Haitao Schneider, Patricia A MacArthur, Daniel H Emerich, Dwaine F Producer: 20060623 In: Biomaterials vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	29.	UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) binds to alpha-actinin 1: novel pathways in skeletal muscle? [electronic resource] by Amsili, Shira Zer, Hagit Hinderlich, Stephan Krause, Sabine Becker-Cohen, Michal MacArthur, Daniel G North, Kathryn N Mitrani-Rosenbaum, Stella Producer: 20080820 In: PloS one vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	30.	Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes. [electronic resource] by Balasubramanian, Suganthi Fu, Yao Pawashe, Mayur McGillivray, Patrick Jin, Mike Liu, Jeremy Karczewski, Konrad J MacArthur, Daniel G Gerstein, Mark Producer: 20171221 In: Nature communications vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	31.	A 'limb-girdle muscular dystrophy' responsive to asthma therapy. [electronic resource] by Mulroy, Eoin Ghaoui, Roula Hutchinson, David Rodrigues, Miriam Lek, Monkol MacArthur, Daniel G Cooper, Sandra T Clarke, Nigel F Roxburgh, Richard Publication details: Practical neurology Aug 2017 In: Practical neurology vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	32.	Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects. [electronic resource] by Zou, James Valiant, Gregory Valiant, Paul Karczewski, Konrad Chan, Siu On Samocha, Kaitlin Lek, Monkol Sunyaev, Shamil Daly, Mark MacArthur, Daniel G Producer: 20180920 In: Nature communications vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	33.	Human genetic variation alters CRISPR-Cas9 on- and off-targeting specificity at therapeutically implicated loci. [electronic resource] by Lessard, Samuel Francioli, Laurent Alfoldi, Jessica Tardif, Jean-Claude Ellinor, Patrick T MacArthur, Daniel G Lettre, Guillaume Orkin, Stuart H Canver, Matthew C Producer: 20180709 In: Proceedings of the National Academy of Sciences of the United States of America vol. 114 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	34.	TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy. [electronic resource] by Ghaoui, Roula Benavides, Tatiana Lek, Monkol Waddell, Leigh B Kaur, Simranpreet North, Kathryn N MacArthur, Daniel G Clarke, Nigel F Cooper, Sandra T Producer: 20180126 In: Neuromuscular disorders : NMD vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	35.	An eMERGE Clinical Center at Partners Personalized Medicine. [electronic resource] by Smoller, Jordan W Karlson, Elizabeth W Green, Robert C Kathiresan, Sekar MacArthur, Daniel G Talkowski, Michael E Murphy, Shawn N Weiss, Scott T Producer: 20160125 In: Journal of personalized medicine vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	36.	Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides. [electronic resource] by Zhang, Sidi Samocha, Kaitlin E Rivas, Manuel A Karczewski, Konrad J Daly, Emma Schmandt, Ben Neale, Benjamin M MacArthur, Daniel G Daly, Mark J Producer: 20181024 In: Genome research vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	37.	Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks. [electronic resource] by Moran, Colin N Yang, Nan Bailey, Mark E S Tsiokanos, Athanasios Jamurtas, Athanasios MacArthur, Daniel G North, Kathryn Pitsiladis, Yannis P Wilson, Richard H Producer: 20070329 In: European journal of human genetics : EJHG vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	38.	A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair. [electronic resource] by Strang-Karlsson, Sonja Johnson, Katherine Töpf, Ana Xu, Liwen Lek, Monkol MacArthur, Daniel G Casar-Borota, Olivera Williams, Maria Straub, Volker Wallgren-Pettersson, Carina Producer: 20191022 In: Neuromuscular disorders : NMD vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	39.	Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients. [electronic resource] by Mroczek, Magdalena Durmus, Hacer Bijarnia-Mahay, Sunita Töpf, Ana Ghaoui, Roula Bryen, Samantha Duff, Jennifer England, Eleina Cooper, Sandra T MacArthur, Daniel G Straub, Volker Producer: 20210726 In: Neuromuscular disorders : NMD vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	40.	Patterns of genic intolerance of rare copy number variation in 59,898 human exomes. [electronic resource] by Ruderfer, Douglas M Hamamsy, Tymor Lek, Monkol Karczewski, Konrad J Kavanagh, David Samocha, Kaitlin E Daly, Mark J MacArthur, Daniel G Fromer, Menachem Purcell, Shaun M Producer: 20170623 In: Nature genetics vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 155 results.