Bibliografia UJ CM

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Ella M.M.A. Martin, Annabelle Enriquez, Duncan B. Sparrow, David T. Humphreys, Aideen M. McInerney-Leo, Paul J. Leo, Emma L. Duncan, Kavitha R. Iyer, Joelene A. Greasby, Eddie Ip, Eleni Giannoulatou, Delicia Sheng, Elizabeth Wohler, Clémantine Dimartino, Jeanne Amiel, Yline Capri, Daphné Lehalle, Adi Mory, Yael Wilnai, Yael Lebenthal, Ali G. Gharavi, Grażyna G. Krzemień, Monika Miklaszewska, Robert D. Steiner, Cathy Raggio, Robert Blank, Hagit Baris Feldman, Hila Milo Rasouly, Nara L.M. Sobreira, Rebekah Jobling, Christopher T. Gordon, Philip F. Giampietro, Sally L. Dunwoodie, Gavin Chapman.
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.
Human Molecular Genetics
2020 : Vol. 29, nr 22, s. 3662-3678, il., bibliog. 72 poz., abstr.
Autor korespondencyjny: Gavin Chapman.
p-ISSN: 0964-6906
AZ
ORG
AIF
IF: 6.150
Adres url:
Streszczenie w PubMed:
DOI:
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Xiao-Fei Kong, Guillaume Vogt, Yuval Itan, Anna Macura-Biegun, Anna Szaflarska, Danuta Kowalczyk, Ariane Chapgier, Avinash Abhyankar, Dieter Furthner, Claudia Djambas Khayat, Satoshi Okada, Vanessa L. Bryant, Dusan Bogunovic, Alexandra Kreins, Marcela Moncada-Velez, Melanie Migaud, Sulaiman Al-Ajaji, Saleh Al-Muhsen, Steven M. Holland, Laurent Abel, Capucine Picard, Damien Chaussabel, Jacinta Bustamante, Jean-Laurent Casanova, Stephanie Boisson-Dupuis.
Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease.
Human Molecular Genetics
2013 : Vol. 22, nr 4, s. 769-781, il., bibliogr. 52 poz.
p-ISSN: 0964-6906
AZ
ORG
AIF
IF: 6.677
Adres url:
Streszczenie w PubMed:
3/5
Satya R. Vemula, Andresa Puschmann, Jianfeng Xiao, Yu Zhao, Monika Rudzińska, Karen P. Frei, Daniel D. Truong, Zbigniew K. Wszolek, Mark S. LeDoux.
Role of Gα(olf) in familial and sporadic adult-onset primary dystonia.
Human Molecular Genetics
2013 : Vol. 22, nr 12, s. 2510-2519, il., bibliogr. 53 poz.
p-ISSN: 0964-6906
AZ
ORG
AIF
IF: 6.677
Adres url:
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Michael H. Cho, Peter J. Castaldi, Emily S. Wan, Mateusz Siedlinski, Craig P. Hersh, Dawn L. DeMeo, Blanca E. Himes, Jody S. Sylvia, Barbara J. Klanderman, John P. Ziniti, Christoph Lange, Augusto A. Litonjua, David Sparrow, Elizabeth A. Regan, Barry J. Make, John E. Hokanson, Tanda Murray, Jacqueline B. Hetmanski, Sreekumar G. Pillai, Xiangyang Kong, Wayne H. Anderson, Ruth Tal-Singer, David A. Lomas, Harvey O. Coxson, Lisa D. Edwards, William MacNee, Jorgen Vestbo, Julie C. Yates, Alvar Agusti, Peter M.A. Calverley, Bartolome Celli, Courtney Crim, Stephen Rennard, Emiel Wouters, Per Bakke, Amund Gulsvik, James D. Crapo, Terri H. Beaty, Edwin K. Silverman.
A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13.
Human Molecular Genetics
2012 : Vol. 21, nr 4, s. 947-957, il., bibliogr. 83 poz.
p-ISSN: 0964-6906
AZ
ORG
AIF
IF: 7.692
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Hylke M. Blauw, Ammar Al-Chalabi, Peter M. Andersen, Paul W.J. Vught, van, Frank P. Diekstra, Michael A. Es, van, Christian G.J. Saris, Ewout J.N. Groen, Wouter Rheenen, van, Max Koppers, Ruben van't Slot, Eric Strengman, Karol Estrada, Fernando Rivadeneira, Albert Hofman, Andre G. Uitterlinden, Lambertus A. Kiemeney, Sita H.M. Vermeulen, Anna Birve, Stefan Waibel, Thomas Meyer, Simon Cronin, Russell L. McLaughlin, Orla Hardiman, Peter C. Sapp, Martin D. Tobin, Louise V. Wain, Barbara Tomik, Agnieszka Slowik, Robin Lemmens, Dan Rujescu, Claudia Schulte, Tomasz Gasser, Robert H. Brown, Jr., John E. Landers, Wim Robberecht, Albert C. Ludolph, Roel A. Ophoff, Jan H. Veldink, Leonard H. Berg, van den.
A large genome scan for rare CNVs in amyotrophic lateral sclerosis.
Human Molecular Genetics
2010 : Vol. 19, nr 20, s. 4091-4099, il., bibliogr. 52 poz.
p-ISSN: 0964-6906
AZ
ORG
AIF
IF: 8.058
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