genetics

  • MKS1 regulates ciliary INPP5E levels in Joubert syndrome
    Gisela G Slaats, Christine R Isabella, Hester Y Kroes, Jennifer C Dempsey, Hendrik Gremmels, Glen R Monroe, Ian G Phelps, Karen J Duran, Jonathan Adkins, Sairam A Kumar, Dana M Knutzen, Nine V Knoers, Nancy J Mendelsohn, David Neubauer, Sotiria D Mastroyianni, Julie Vogt, Lisa Worgan, Natalya Karp, Sarah Bowdin, Ian A Glass, Melissa A Parisi, Edgar A Otto, Colin A Johnson, Friedhelm Hildebrandt, Gijs van Haaften, Rachel H Giles, Dan Doherty
  • Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith–Wiedemann syndrome
    Jennifer M Kalish, Kara E Boodhansingh, Tricia R Bhatti, Arupa Ganguly, Laura K Conlin, Susan A Becker, Stephanie Givler, Lindsey Mighion, Andrew A Palladino, N Scott Adzick, Diva D De León, Charles A Stanley, Matthew A Deardorff
  • Genome-wide significant association with seven novel multiple sclerosis risk loci
    Christina M Lill, Felix Luessi, Antonio Alcina, Ekaterina A Sokolova, Nerea Ugidos, Belén de la Hera, Léna Guillot-Noël, Sunny Malhotra, Eva Reinthaler, Brit-Maren M Schjeide, Julia Y Mescheriakova, Andriy Mashychev, Inken Wohlers, Denis A Akkad, Orhan Aktas, Iraide Alloza, Alfredo Antigüedad, Rafa Arroyo, Ianire Astobiza, Paul Blaschke, Alexei N Boyko, Mathias Buttmann, Andrew Chan, Thomas Dörner, Joerg T Epplen, Olga O Favorova, Maria Fedetz, Oscar Fernández, Angel García-Martínez, Lisa-Ann Gerdes, Christiane Graetz, Hans-Peter Hartung, Sabine Hoffjan, Guillermo Izquierdo, Denis S Korobko, Antje Kroner, Christian Kubisch, Tania Kümpfel, Laura Leyva, Peter Lohse, Nadezhda A Malkova, Xavier Montalban, Ekaterina V Popova, Peter Rieckmann, Alexei S Rozhdestvenskii, Christiane Schmied, Inna V Smagina, Ekaterina Y Tsareva, Alexander Winkelmann, Uwe K Zettl, Harald Binder, Isabelle Cournu-Rebeix, Rogier Hintzen, Alexander Zimprich, Manuel Comabella, Bertrand Fontaine, Elena Urcelay, Koen Vandenbroeck, Maxim Filipenko, Fuencisla Matesanz, Frauke Zipp, Lars Bertram
  • Cowden's syndrome with immunodeficiency
    Michael J Browning, Anita Chandra, Valentina Carbonaro, Klaus Okkenhaug, Julian Barwell
  • Intellectual ability in tuberous sclerosis complex correlates with predicted effects of mutations on TSC1 and TSC2 proteins
    Ho Tin Wong, Deborah L McCartney, Julia C Lewis, Julian R Sampson, Christopher J Howe, Petrus J de Vries
  • Inherited predisposition to colorectal cancer: towards a more complete picture
    Emma Short, Laura E Thomas, Joanna Hurley, Sian Jose, Julian R Sampson
  • A human laterality disorder caused by a homozygous deleterious mutation in MMP21
    Zeev Perles, Sungjin Moon, Asaf Ta-Shma, Barak Yaacov, Ludmila Francescatto, Simon Edvardson, Azaria JJT Rein, Orly Elpeleg, Nicholas Katsanis
  • HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome
    Ronja Hollstein, David A Parry, Lisa Nalbach, Clare V Logan, Tim M Strom, Verity L Hartill, Ian M Carr, Georg C Korenke, Sandeep Uppal, Mushtaq Ahmed, Thomas Wieland, Alexander F Markham, Christopher P Bennett, Gabriele Gillessen-Kaesbach, Eamonn G Sheridan, Frank J Kaiser, David T Bonthron
  • Buccal swab as a reliable predictor for X inactivation ratio in inaccessible tissues
    Bas de Hoon, Kim Monkhorst, Peter Riegman, Joop S E Laven, Joost Gribnau
  • Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN)
    Santhosh Dhanraj, Sethu Madhava Rao Gunja, Adam P Deveau, Mikael Nissbeck, Boonchai Boonyawat, Andrew J Coombs, Alessandra Renieri, Mafalda Mucciolo, Annabella Marozza, Sabrina Buoni, Lesley Turner, Hongbing Li, Ameer Jarrar, Mathura Sabanayagam, Melanie Kirby, Mary Shago, Dalila Pinto, Jason N Berman, Stephen W Scherer, Anders Virtanen, Yigal Dror

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