Browsing by Author Greenwood Genet Ctr

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Showing results 1 to 6 of 6
Issue DateTitleAuthor(s)
1-Mar-2013Diagnosing mucopolysaccharidosis IVAWood, Timothy C.; Harvey, Katie; Beck, Michael; Burin, Maira Graeff; Chien, Yin-Hsiu; Church, Heather J.; D'Almeida, Vânia [UNIFESP]; van Diggelen, Otto P.; Fietz, Michael; Giugliani, Roberto; Harmatz, Paul; Hawley, Sara M.; Hwu, Wuh-Liang; Ketteridge, David; Lukacs, Zoltan; Miller, Nicole; Pasquali, Marzia; Schenone, Andrea; Thompson, Jerry N.; Tylee, Karen; Yu, Chunli; Hendriksz, Christian J.; Greenwood Genet Ctr; Great Ormond St Hosp Sick Children; Johannes Gutenberg Univ Mainz; Hosp Clin Porto Alegre; Natl Taiwan Univ Hosp; St Marys Hosp; Universidade Federal de São Paulo (UNIFESP); Erasmus Univ; SA Pathol; Univ Fed Rio Grande do Sul; Childrens Hosp Oakland; BioMarin Pharmaceut Inc; Dept Pediat; Inst Clin Chem; Univ Utah; Fdn Estudio Enfermedades Neurometab FESEN; Univ Alabama Birmingham; Mt Sinai Sch Med; Univ Manchester; Salford Royal NHS Fdn Trust
1-May-2012Expert recommendations for the laboratory diagnosis of MPS VIWood, T.; Bodamer, O. A.; Burin, M. G.; D'Almeida, V. [UNIFESP]; Fietz, M.; Giugliani, R.; Hawley, S. M.; Hendriksz, C. J.; Hwu, W. L.; Ketteridge, D.; Lukacs, Z.; Mendelsohn, N. J.; Miller, N.; Pasquali, M.; Schenone, A.; Schoonderwoerd, K.; Winchester, B.; Harmatz, P.; Greenwood Genet Ctr; Univ Miami; Hosp Clin Porto Alegre; Universidade Federal de São Paulo (UNIFESP); Women & Childrens Hosp; Univ Fed Rio Grande do Sul; BioMarin Pharmaceut Inc; Birmingham Childrens Hosp NHS Fdn Trust; Natl Taiwan Univ Hosp; Dept Pediat; Inst Clin Chem; Childrens Hosp & Clin Minnesota; Univ Utah; Fdn Estudio Enfermedades Neurometab FESEN; Erasmus MC; UCL Inst Child Hlth; Childrens Hosp Oakland
1-May-2014Mutations in the Human UBR1 Gene and the Associated Phenotypic SpectrumSukalo, Maja; Fiedler, Ariane; Guzman, Celina; Spranger, Stephanie; Addor, Marie-Claude; Mcheik, Jiad N.; Benavent, Manuel Oltra; Cobben, Jan M.; Gillis, Lynette A.; Shealy, Amy G.; Deshpande, Charu; Bozorgmehr, Bita; Everman, David B.; Stattin, Eva-Lena; Liebelt, Jan; Keller, Klaus-Michael; Bertola, Debora Romeo; van Karnebeek, Clara D. M.; Bergmann, Carsten; Liu, Zhifeng; Dueker, Gesche; Rezaei, Nima; Alkuraya, Fowzan S.; Ogur, Gonul; Alrajoudi, Abdullah; Venegas-Vega, Carlos A.; Verbeek, Nienke E.; Richmond, Erick J.; Kirbiyik, Ozgur; Ranganath, Prajnya; Singh, Ankur; Godbole, Koumudi; Ali, Fouad A. M.; Alves, Cresio; Mayerle, Julia; Lerch, Markus M.; Witt, Heiko; Zenker, Martin; Univ Hosp Magdeburg; Univ Hosp Erlangen; Hosp Nacl Ninos Dr Carlos Saenz Herrera; Klinikum Bremen Mitte; CHU Vaudois; Univ Hosp; Hosp La Fe; AMC Univ Hosp; Vanderbilt Univ; Cleveland Clin; Guys Hosp; Kariminejad Najmabadi Pathol & Genet Ctr; Greenwood Genet Ctr; Umea Univ; Womens & Childrens Hosp; Stiftung Deutsch Klin Diagnost GmbH; Universidade Federal de São Paulo (UNIFESP); Univ British Columbia; Ctr Human Genet; Nanjing Med Univ; Univ Klinikum Bonn; Univ Tehran Med Sci; King Faisal Specialist Hosp & Res Ctr; Ondokuz Mayis Univ; Al Thawra Teaching Hosp; Hosp Gen Mexico City; Univ Med Ctr Utrecht; Natl Childrens Hosp; Sisli Etfal Res Hosp; Nizams Inst Med Sci; Maulana Azad Med Coll; Deenanath Mangeshkar Hosp & Res Ctr; Minist Hlth; Universidade Federal da Bahia (UFBA); Ernst Moritz Arndt Univ Greifswald; Tech Univ Munich
1-Apr-2003Shashi XLMR syndrome: Report of a second familyCastro, NHC; Santos, RCS dos; Nelson, R.; Becak, W.; Hane, B.; Lindsey, C. J.; Lubs, H. A.; Stevenson, R. E.; Schwartz, C. E.; Greenwood Genet Ctr; Inst Butantan; Universidade Federal de São Paulo (UNIFESP); Univ Miami; Univ Taubate
30-Apr-2003Stocco dos Santos X-linked mental retardation syndrome: Clinical elucidation and localization to Xp11.3-Xq21.3Santos, RCS dos; Castro, NHC; Holmes, A. L.; Becak, W.; Tackels-Horne, D.; Lindsey, C. J.; Lubs, H. A.; Stevenson, R. E.; Schwartz, C. E.; Inst Butantan; Universidade Federal de São Paulo (UNIFESP); Univ Miami; Univ Taubate; Greenwood Genet Ctr
1-Oct-1999Stocco dos santos XLMR syndrome: Clinical update and linkage analysis.Santos, RCS dos; Holmes, L. M.; Lindsey, Charles Julian [UNIFESP]; Lubs, H. A.; Horne, D. T.; Recouso, R. C.; Stevenson, R. E.; Schwartz, C. E.; Inst Butantan; Greenwood Genet Ctr; Universidade Federal de São Paulo (UNIFESP); Univ Miami