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There are 9677 results for: content related to: CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes

  1. You have free access to this content
    Mitochondrial DNA Diversity in Indigenous Populations of the Southern Extent of Siberia, and the Origins of Native American Haplogroups

    Annals of Human Genetics

    Volume 69, Issue 1, January 2005, Pages: 67–89, Elena B. Starikovskaya, Rem I. Sukernik, Olga A. Derbeneva, Natalia V. Volodko, Eduardo Ruiz-Pesini, Antonio Torroni, Michael D. Brown, Marie T. Lott, Seyed H. Hosseini, Kirsi Huoponen and Douglas C. Wallace

    Article first published online : 7 JAN 2005, DOI: 10.1046/j.1529-8817.2003.00127.x

  2. Three missense mutations found in the KEL gene lead to Kmod or K0 red blood cell phenotypes

    Transfusion

    Volume 54, Issue 12, December 2014, Pages: 3216–3221, Antonella Matteocci, Tommaso Mancuso, Alessandra Moscetti, Angela Collaretti, Katiuscia Castagna, Cinzia Spaccino, Tyler Hutchinson, Paola Grammatico and Luca Pierelli

    Article first published online : 20 JUL 2014, DOI: 10.1111/trf.12748

  3. Role of β-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis

    Human Mutation

    Volume 25, Issue 3, March 2005, Pages: 285–292, Anna Caciotti, Maria Alice Donati, Avihu Boneh, Alessandra d'Azzo, Antonio Federico, Rossella Parini, Danielas Antuzzi, Tiziana Bardelli, Daniele Nosi, Virginia Kimonis, Enrico Zammarchi and Amelia Morrone

    Article first published online : 15 FEB 2005, DOI: 10.1002/humu.20147

  4. The new bone biology: Pathologic, molecular, and clinical correlates

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 23, 1 December 2006, Pages: 2646–2706, M. Michael Cohen Jr.

    Article first published online : 13 NOV 2006, DOI: 10.1002/ajmg.a.31368

  5. Mitochondrial genome diversity in the tubalar, even, and ulchi: Contribution to prehistory of native siberians and their affinities to native americans

    American Journal of Physical Anthropology

    Volume 148, Issue 1, May 2012, Pages: 123–138, Rem I. Sukernik, Natalia V. Volodko, Ilya O. Mazunin, Nikolai P. Eltsov, Stanislav V. Dryomov and Elena B. Starikovskaya

    Article first published online : 4 APR 2012, DOI: 10.1002/ajpa.22050

  6. Molecular analysis of immunized Jr(a–) or Lan– patients and validation of a high-throughput genotyping assay to screen blood donors for Jr(a–) and Lan– phenotypes

    Transfusion

    Volume 54, Issue 7, July 2014, Pages: 1836–1846, Lonneke Haer-Wigman, Aïcha Ait Soussan, Peter Ligthart, Masja de Haas and C. Ellen van der Schoot

    Article first published online : 24 JAN 2014, DOI: 10.1111/trf.12544

  7. Untersuchung von zwei Milchstraßenfeldern auf Veränderliche (124 neue Veränderliche)

    Astronomische Nachrichten

    Volume 232, Issue 4, 1928, Pages: 65–70, W. Baade

    Article first published online : 24 MAR 2006, DOI: 10.1002/asna.19282320403

  8. A screen of a large Czech cohort of oligodontia patients implicates a novel mutation in the PAX9 gene

    European Journal of Oral Sciences

    Volume 123, Issue 2, April 2015, Pages: 65–71, Omar Šerý, Ondřej Bonczek, Alena Hloušková, Pavlína Černochová, Jiří Vaněk, Ivan Míšek, Přemysl Krejčí and Lydie Izakovičová Hollá

    Article first published online : 14 FEB 2015, DOI: 10.1111/eos.12170

  9. Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

    Human Mutation

    Volume 33, Issue 8, August 2012, Pages: 1161–1165, Marian Kroos, Marianne Hoogeveen-Westerveld, Helen Michelakakis, Robert Pomponio, Ans Van der Ploeg, Dicky Halley, Arnold Reuser, GAA Database Consortium:, Persephone Augoustides-Savvopoulou, Margreet Ausems, Jose Barcena Llona, Juan Bautista Lorite, Nadine van der Beek, Luisa Bonafe, Mario Cuk, Marc D'Hooghe, Baziel Engelen, A. Farouk, K. Fumic, E. Garcia-Delgado, Andreas Herzog, J. Hurst, Simon Jones, M. H. Kariminejad, Aynur Küçükçongar, W. Lissens, Allan Lund, Danielle Majoor-Krakauer, Shingo Kumamoto, E. Maravi, Suely Marie, Eugen Mengel, Irene Mavridou, E. Munteis Olivas, H. Najmabadi, Toshika Okumiya, Stojan Peric, Eduard Paschke, Barbara Plecko, Wim Robberecht, Piraye Serdaroglu, Mohammad Shboul, Mojca Zerjav Tansek, A. Tarnutzer, Vidosava Rakocevic Stojanovic, Anna Tylki-Szymanska, Maria Venâncio and Kristof Verhoeven

    Article first published online : 29 MAY 2012, DOI: 10.1002/humu.22108

  10. The Gly571arg mutation, associated with the autonomic and sensory disorder congenital insensitivity to pain with anhidrosis, causes the inactivation of the NTRK1/nerve growth factor receptor

    Journal of Cellular Physiology

    Volume 182, Issue 1, January 2000, Pages: 127–133, Angela Greco, Riccardo Villa, Lisa Fusetti, Rosaria Orlandi and Marco A. Pierotti

    Article first published online : 18 NOV 1999, DOI: 10.1002/(SICI)1097-4652(200001)182:1<127::AID-JCP14>3.0.CO;2-0

  11. Re-Os isotope and platinum group elements of a FOcal ZOne mantle source, Louisville Seamounts Chain, Pacific ocean

    Geochemistry, Geophysics, Geosystems

    Volume 16, Issue 2, February 2015, Pages: 486–504, Maria Luisa G. Tejada, Takeshi Hanyu, Akira Ishikawa, Ryoko Senda, Katsuhiko Suzuki, Godfrey Fitton and Rebecca Williams

    Article first published online : 19 FEB 2015, DOI: 10.1002/2014GC005629

  12. Ultrahigh-resolution structure of a BPTI mutant

    Acta Crystallographica Section D

    Volume 57, Issue 5, May 2001, Pages: 649–663, Anthony Addlagatta, Szymon Krzywda, Honorata Czapinska, Jacek Otlewski and Mariusz Jaskolski

    DOI: 10.1107/S0907444901003468

  13. You have free access to this content
    Structural interpretation of 42 mutations causing factor XI deficiency using homology modeling

    Journal of Thrombosis and Haemostasis

    Volume 3, Issue 1, January 2005, Pages: 127–138, N. M. O'CONNELL, R. E. SAUNDERS, C. A. LEE, D. J. PERRY and S. J. PERKINS

    Article first published online : 22 DEC 2004, DOI: 10.1111/j.1538-7836.2004.01088.x

  14. Use of a 15 k gene microarray to determine gene expression changes in response to acute and chronic methylmercury exposure in the fathead minnow Pimephales promelas Rafinesque

    Journal of Fish Biology

    Volume 72, Issue 9, June 2008, Pages: 2207–2280, R. Klaper, B. J. Carter, C. A. Richter, P. E. Drevnick, M. B. Sandheinrich and D. E. Tillitt

    Article first published online : 28 JUN 2008, DOI: 10.1111/j.1095-8649.2008.01899.x

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    Corrigendum

    Vol. 77, Issue 1, 310, Article first published online: 16 JUL 2010

  15. Über Peptidyl-Prolyl-cis/trans-Isomerasen und ihre Effektoren

    Angewandte Chemie

    Volume 106, Issue 14, 14. Juli 1994, Pages: 1479–1501, Prof. Dr. Gunter Fischer

    Article first published online : 24 JAN 2006, DOI: 10.1002/ange.19941061404

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    Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses

    Human Mutation

    Volume 33, Issue 1, January 2012, Pages: 42–63, Maria Kousi, Anna-Elina Lehesjoki and Sara E. Mole

    Article first published online : 16 NOV 2011, DOI: 10.1002/humu.21624

  17. Deciphering the role of the electrostatic interactions in the α-tropomyosin head-to-tail complex

    Proteins: Structure, Function, and Bioinformatics

    Volume 73, Issue 4, December 2008, Pages: 902–917, Fernando Corrêa, Roberto Kopke Salinas, Alexandre M. J. J. Bonvin and Chuck S. Farah

    Article first published online : 5 JUN 2008, DOI: 10.1002/prot.22116

  18. Interparietal bone (Os Incae) in craniosynostosis

    American Journal of Medical Genetics Part A

    Volume 155, Issue 2, February 2011, Pages: 287–294, June K. Wu, James T. Goodrich, Chiemezie C. Amadi, Todd Miller, John B. Mulliken and Alan L. Shanske

    Article first published online : 22 DEC 2010, DOI: 10.1002/ajmg.a.33800

  19. Olmsted syndrome with erythromelalgia caused by recessive transient receptor potential vanilloid 3 mutations

    British Journal of Dermatology

    Volume 171, Issue 3, September 2014, Pages: 675–678, S. Duchatelet, L. Guibbal, S. de Veer, S. Fraitag, P. Nitschké, M. Zarhrate, C. Bodemer and A. Hovnanian

    Article first published online : 4 AUG 2014, DOI: 10.1111/bjd.12951

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    Photochemoprevention of UVB-induced skin carcinogenesis in SKH-1 mice by brown algae polyphenols

    International Journal of Cancer

    Volume 119, Issue 12, 15 December 2006, Pages: 2742–2749, Hyejeong Hwang, Tong Chen, Ronald G. Nines, Hyeon-Cheol Shin and Gary D. Stoner

    Article first published online : 3 OCT 2006, DOI: 10.1002/ijc.22147