Browsing Hospital das Clínicas da Faculdade de Medicina - HC by Subject "UBR1"

Browsing Hospital das Clínicas da Faculdade de Medicina - HC by Subject "UBR1"

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  • SUKALO, 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; KARNEBEEK, Clara D. M. van; 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 (SOC ESPANOLA NEFROLOGIA DR RAFAEL MATESANZ, MADRID, SPAIN, 2014)
    Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental anomalies, hypothyroidism, sensorineural hearing loss, scalp ...

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