Bile salt export pump deficiency disease: two novel, late onset, ABCB11 mutations identified by next generation sequencing Journal title: Annals of Hepatology Authors: Giovanni Vitale, Martina Pirillo, Vilma Mantovani, Elena Marasco, Adelia Aquilano, Nesrine Gam... Subject(s):
Rodzinne przedwczesne dojrzewanie płciowe – wariant normy, czy patologia? Journal title: Endokrynologia, Diabetologia i Choroby Przemiany Materii Wieku Rozwojowego Authors: Katarzyna Ziora, Joanna Oświęcimska, Gabriela Geisler, Mieczysław Szalecki, Antoni Dyduch Subject(s):
Rodzinny niedobór glikokortykosteroidów Journal title: Endokrynologia, Diabetologia i Choroby Przemiany Materii Wieku Rozwojowego Authors: Artur Mazur, Mariusz Ostański, Maria Kalina Subject(s):
RODZINNA DYSPLAZJA WŁÓKNISTA JAKO JEDEN Z OBJAWÓW ZESPOŁU CHOROBOWEGO CZY TYLKO CHERUBIZM? Journal title: Pomeranian Journal of Life Sciences Authors: MARIA SYRYŃSKA , LILIANA SZYSZKA , MARCIN POST Subject(s):
Family with a multiple cancer syndrome Journal title: Human & Veterinary Medicine - International Journal of the Bioflux Society Authors: Daciana Chirilă, Nicolae Turdeanu, Nicolae Constantea, Radu Popp, Ovidiu Bălăcescu, Tudor Pop, Cătă... Subject(s):
Ailesel Akdeniz Ateşi Hastalarında Plazma MDA Düzeyi, GSH-Px Aktivitesi ve Nitrit/Nitrat Düzeyi Journal title: Journal of Clinical and Analytical Medicine Authors: Subject(s): Surgery, Health Care Sciences & Services, Medicine, General & Internal, Humanities, Multidisciplinary
Familial haemophagocytic lymphohistiocytosis: rare cause of acute liver failure in a neonate--a case report Journal title: Internet Journal of Medical Update Authors: Rahul Ojha, Sayed Zia, Fauwaz Al-Kasim, Abdul Al-Hussaini Subject(s):
Case report of unusual presentation of marfanoid features in a 13-year-old boy with Gardner’s syndrome Journal title: International Journal of Medical Science and Public Health Authors: Osama Abdalla Mabrouk Kheiralla, Abdullah I Aedh, Waleed G Babikr, Madani MA Globawe Subject(s):
Familial mediterranean fever: Molecular analysis Journal title: Αρχεία Ελληνικής Ιατρικής Authors: A. APESSOS, M. MICHALATOS, I. BELOGIANNI, T. ROKKAS, P. FILALITHIS, E. GRAPSAS, G. TASIOULAS Subject(s):
Development of THP assay and clinical applications Journal title: Journal of Analytical Bio-Science Authors: Hiroji Shimomura Subject(s):
Familial multiple lipomatosis—a rare syndrome diagnosed on FNAC Journal title: International Journal of Medical Science and Public Health Authors: Rahul Ware, Avinash Mane, Sneha Saini, Neerav Saini Subject(s):
Familial adenomatous polyposis. Recent developments in diagnosis and treatment Journal title: Αρχεία Ελληνικής Ιατρικής Authors: K. FOTIADIS, D. TSEKOURAS, M. GENETZAKIS, G. ZOGRAFOS Subject(s):
Οικογενής πολυποδίαση. Τι νεότερο στη διάγνωση και τη θεραπεία<br /> Journal title: Αρχεία Ελληνικής Ιατρικής Authors: K. FOTIADIS, D. TSEKOURAS, M. GENETZAKIS, G. ZOGRAFOS Subject(s):
Οικογενής μεσογειακός πυρετός. Μοριακή ανάλυση<br /> Journal title: Αρχεία Ελληνικής Ιατρικής Authors: A. APESSOS, M. MICHALATOS, I. BELOGIANNI, T. ROKKAS, P. FILALITHIS, E. GRAPSAS, G. TASIOULAS Subject(s):
Frontotemporal dementia and parkinsonism linked to chromosome 17 Journal title: Folia Neuropathologica Authors: Zbigniew Wszołek, Jerzy Słowiński, Maciej Golan, Dennis Dickson Subject(s):
