References
Aug 1, 1992·Journal of Medical Genetics·M E PorteousS J Proctor
May 1, 1992·Annals of Human Biology·A BideauJ M Robert
Mar 1, 1989·American Journal of Medical Genetics·H PlauchuJ M Robert
May 1, 1995·Human Molecular Genetics·P VincentJ Godet
Dec 1, 1994·Journal of Medical Genetics·K A McAllisterD A Marchuk
Dec 1, 1994·Nature Genetics·K A McAllisterJ Murrell
Feb 1, 1994·Nature Genetics·M T McDonaldJ L Vanderstoep
Jun 1, 1996·Nature Genetics·D W JohnsonD A Marchuk
Mar 1, 1996·Journal of Medical Genetics·J N BergM E Porteous
Mar 30, 1999·Journal of Internal Medicine·A D KjeldsenA Green
Apr 3, 1999·The Journal of Biological Chemistry·A LuxD A Marchuk
Jan 17, 2002·Human Mutation·Miwako DakeishiAkio Koizumi
Jul 13, 2002·Journal of Medical Genetics·C OlivieriC Danesino
Feb 5, 2003·Postgraduate Medical Journal·M E BegbieC L Shovlin
Mar 20, 2004·Lancet·Carol J GallioneDouglas A Marchuk
Feb 16, 2005·Human Mutation·Heidi K A KuehlManfred Stuhrmann
Feb 16, 2005·Human Mutation·Salma A AbdallaMichelle Letarte
May 10, 2005·Journal of Medical Genetics·S A Abdalla, M Letarte
Jul 5, 2005·Journal of Medical Genetics·S G ColeC L Shovlin
Aug 27, 2005·Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society·Loukas ArgyriouWolfgang Engel
Sep 13, 2005·Journal of Medical Genetics·T G W LetteboerC J J Westermann
Sep 17, 2005·Journal of Internal Medicine·A D KjeldsenP E Andersen
Apr 14, 2006·Current Pharmaceutical Design·G M Lenato, G Guanti
Apr 15, 2006·Journal of Medical Genetics·C J GallioneD A Marchuk
May 17, 2006·Wiener klinische Wochenschrift·Haneen SadickKarl Hörmann
May 18, 2006·Human Mutation·Gaëtan LescaUNKNOWN French Rendu-Osler Network
Jun 6, 2006·Human Mutation·Aaron D BosslerArupa Ganguly
Sep 14, 2006·American Journal of Medical Genetics. Part a·Pinar Bayrak-ToydemirRong Mao
Jan 24, 2007·Journal of Hepatology·Guadalupe Garcia-Tsao
Apr 2, 2009·European Journal of Human Genetics : EJHG·Fatima S Govani, Claire L Shovlin
Oct 7, 2009·The Journal of Clinical Investigation·Sung Ok ParkS Paul Oh
Sep 18, 2010·Inflammatory Bowel Diseases·Mirjana JerkicMichelle Letarte
Sep 28, 2010·Blood Reviews·Claire L Shovlin
Aug 2, 2011·European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : Affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery·C RohrmeierT S Kuehnel
Citations
Jul 3, 2015·QJM : Monthly Journal of the Association of Physicians·P-L LayC-H Hsu
Dec 3, 2014·European Journal of Medical Genetics·Alicia SemakaMartine J van Belzen
Aug 11, 2017·Circulation Journal : Official Journal of the Japanese Circulation Society·Tomohisa NakamuraSatoshi Yasuda
Jun 9, 2019·Orphanet Journal of Rare Diseases·Annalisa TortoraAntonio Gasbarrini
May 1, 2021·Journal of Clinical Medicine·Tamás MajorZsuzsanna Bereczky
Mar 8, 2021·Clinical and Experimental Otorhinolaryngology·Bo-Gyeong KimSeon-Tae Kim