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	1.	High-density genomewide linkage analysis of exceptional human longevity identifies multiple novel loci. [electronic resource] by Boyden, Steven E Kunkel, Louis M Producer: 20101104 In: PloS one vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Vibratory Urticaria and ADGRE2. [electronic resource] by Boyden, Steven E Metcalfe, Dean D Komarow, Hirsh D Producer: 20160714 In: The New England journal of medicine vol. 375 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE. [electronic resource] by Boyden, Steven E Duncan, Anna R Estrella, Elicia A Lidov, Hart G W Mahoney, Lane J Katz, Jonathan S Kunkel, Louis M Kang, Peter B Producer: 20110915 In: BMC medical genetics vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2. [electronic resource] by Mitsuhashi, Satomi Boyden, Steven E Estrella, Elicia A Jones, Takako I Rahimov, Fedik Yu, Timothy W Darras, Basil T Amato, Anthony A Folkerth, Rebecca D Jones, Peter L Kunkel, Louis M Kang, Peter B Producer: 20140724 In: Neuromuscular disorders : NMD vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome. [electronic resource] by Faridi, Rabia Tona, Risa Brofferio, Alessandra Hoa, Michael Olszewski, Rafal Schrauwen, Isabelle Assir, Muhammad Z K Bandesha, Akhtar A Khan, Asma A Rehman, Atteeq U Brewer, Carmen Ahmed, Wasim Leal, Suzanne M Riazuddin, Sheikh Boyden, Steven E Friedman, Thomas B Producer: 20200309 In: Human mutation vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Efficient identification of novel mutations in patients with limb girdle muscular dystrophy. [electronic resource] by Boyden, Steven E Salih, Mustafa A Duncan, Anna R White, Alexander J Estrella, Elicia A Burgess, Stephanie L Seidahmed, Mohammed Z Al-Jarallah, Abdullah S Alkhalidi, Hisham M S Al-Maneea, Waleed M Bennett, Richard R Alshemmari, Salem H Kunkel, Louis M Kang, Peter B Producer: 20110118 In: Neurogenetics vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. [electronic resource] by Boyden, Steven E Mahoney, Lane J Kawahara, Genri Myers, Jennifer A Mitsuhashi, Satomi Estrella, Elicia A Duncan, Anna R Dey, Friederike DeChene, Elizabeth T Blasko-Goehringer, Jessica M Bönnemann, Carsten G Darras, Basil T Mendell, Jerry R Lidov, Hart G W Nishino, Ichizo Beggs, Alan H Kunkel, Louis M Kang, Peter B Producer: 20120830 In: Neurogenetics vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Vibratory Urticaria Associated with a Missense Variant in ADGRE2. [electronic resource] by Boyden, Steven E Desai, Avanti Cruse, Glenn Young, Michael L Bolan, Hyejeong C Scott, Linda M Eisch, A Robin Long, R Daniel Lee, Chyi-Chia R Satorius, Colleen L Pakstis, Andrew J Olivera, Ana Mullikin, James C Chouery, Eliane Mégarbané, André Medlej-Hashim, Myrna Kidd, Kenneth K Kastner, Daniel L Metcalfe, Dean D Komarow, Hirsh D Producer: 20160301 In: The New England journal of medicine vol. 374 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency. [electronic resource] by Jabara, Haifa H Boyden, Steven E Chou, Janet Ramesh, Narayanaswamy Massaad, Michel J Benson, Halli Bainter, Wayne Fraulino, David Rahimov, Fedik Sieff, Colin Liu, Zhi-Jian Alshemmari, Salem H Al-Ramadi, Basel K Al-Dhekri, Hasan Arnaout, Rand Abu-Shukair, Mohammad Vatsayan, Anant Silver, Eli Ahuja, Sanjay Davies, E Graham Sola-Visner, Martha Ohsumi, Toshiro K Andrews, Nancy C Notarangelo, Luigi D Fleming, Mark D Al-Herz, Waleed Kunkel, Louis M Geha, Raif S Producer: 20160511 In: Nature genetics vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Brief Report: Whole-Exome Sequencing to Identify Rare Variants and Gene Networks That Increase Susceptibility to Scleroderma in African Americans. [electronic resource] by Gourh, Pravitt Remmers, Elaine F Boyden, Steven E Alexander, Theresa Morgan, Nadia D Shah, Ami A Mayes, Maureen D Doumatey, Ayo Bentley, Amy R Shriner, Daniel Domsic, Robyn T Medsger, Thomas A Steen, Virginia D Ramos, Paula S Silver, Richard M Korman, Benjamin Varga, John Schiopu, Elena Khanna, Dinesh Hsu, Vivien Gordon, Jessica K Saketkoo, Lesley Ann Gladue, Heather Kron, Brynn Criswell, Lindsey A Derk, Chris T Bridges, S Louis Shanmugam, Victoria K Kolstad, Kathleen D Chung, Lorinda Jan, Reem Bernstein, Elana J Goldberg, Avram Trojanowski, Marcin Kafaja, Suzanne Maksimowicz-McKinnon, Kathleen M Mullikin, James C Adeyemo, Adebowale Rotimi, Charles Boin, Francesco Kastner, Daniel L Wigley, Fredrick M Producer: 20190722 In: Arthritis & rheumatology (Hoboken, N.J.) vol. 70 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	None [electronic resource] by Gourh, Pravitt Safran, Sarah A Alexander, Theresa Boyden, Steven E Morgan, Nadia D Shah, Ami A Mayes, Maureen D Doumatey, Ayo Bentley, Amy R Shriner, Daniel Domsic, Robyn T Medsger, Thomas A Ramos, Paula S Silver, Richard M Steen, Virginia D Varga, John Hsu, Vivien Saketkoo, Lesley Ann Schiopu, Elena Khanna, Dinesh Gordon, Jessica K Kron, Brynn Criswell, Lindsey A Gladue, Heather Derk, Chris T Bernstein, Elana J Bridges, S Louis Shanmugam, Victoria K Kolstad, Kathleen D Chung, Lorinda Kafaja, Suzanne Jan, Reem Trojanowski, Marcin Goldberg, Avram Korman, Benjamin D Steinbach, Peter J Chandrasekharappa, Settara C Mullikin, James C Adeyemo, Adebowale Rotimi, Charles Wigley, Fredrick M Kastner, Daniel L Boin, Francesco Remmers, Elaine F Producer: 20200505 In: Proceedings of the National Academy of Sciences of the United States of America vol. 117 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease. [electronic resource] by Lalaoui, Najoua Boyden, Steven E Oda, Hirotsugu Wood, Geryl M Stone, Deborah L Chau, Diep Liu, Lin Stoffels, Monique Kratina, Tobias Lawlor, Kate E Zaal, Kristien J M Hoffmann, Patrycja M Etemadi, Nima Shield-Artin, Kristy Biben, Christine Tsai, Wanxia Li Blake, Mary D Kuehn, Hye Sun Yang, Dan Anderton, Holly Silke, Natasha Wachsmuth, Laurens Zheng, Lixin Moura, Natalia Sampaio Beck, David B Gutierrez-Cruz, Gustavo Ombrello, Amanda K Pinto-Patarroyo, Gineth P Kueh, Andrew J Herold, Marco J Hall, Cathrine Wang, Hongying Chae, Jae Jin Dmitrieva, Natalia I McKenzie, Mark Light, Amanda Barham, Beverly K Jones, Anne Romeo, Tina M Zhou, Qing Aksentijevich, Ivona Mullikin, James C Gross, Andrew J Shum, Anthony K Hawkins, Edwin D Masters, Seth L Lenardo, Michael J Boehm, Manfred Rosenzweig, Sergio D Pasparakis, Manolis Voss, Anne K Gadina, Massimo Kastner, Daniel L Silke, John Producer: 20200408 In: Nature vol. 577 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)