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TÍTULO: The genetic basis of asymptomatic codon 8 frame-shift (HBB:c25_26delAA) beta(0)-thalassaemia homozygotes  Full Text
AUTORES: Zhihua H Jiang; Hong yuan Luo; Shengwen W Huang; John J Farrell; Lance Davis; Roger Theberge; Katherine A Benson; Suchada Riolueang; Vip Viprakasit; Nasir A S Al Allawi; Sule Unal; Fatma Gumruk; Nejat Akar; Nazli N Basak; Leonor Osorio; Catherine Badens; Serge Pissard; Philippe Joly; Andrew D Campbell; Patrick G Gallagher; Martin H Steinberg; Bernard G Forget; David H K Chui; ...Mais
PUBLICAÇÃO: 2016, FONTE: BRITISH JOURNAL OF HAEMATOLOGY, VOLUME: 172, NÚMERO: 6
INDEXADO EM: Scopus WOS CrossRef
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TÍTULO: Spectrum of Atypical Clinical Presentations in Patients With Biallelic PRF1 Missense Mutations. Atypical Presentations of Perforin Deficiency  Full Text
AUTORES: Bianca Tesi; Samuel C C Chiang; Dalia El Ghoneimy; Ayad Ahmed Hussein; Cecilia Langenskiold; Rabia Wali; Zehra Fadoo; Joao Pinho Silva; Ramon Lecumberri; Sule Unal; Magnus Nordenskjold; Yenan T Bryceson; Jan Inge Henter; Marie Meeths;
PUBLICAÇÃO: 2015, FONTE: PEDIATRIC BLOOD & CANCER, VOLUME: 62, NÚMERO: 12
INDEXADO EM: Scopus WOS CrossRef
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TÍTULO: Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis  Full Text
AUTORES: Bianca Tesi; Kristina Lagerstedt Robinson; Samuel C C Chiang; Eya Ben Bdira; Miguel Abboud; Burcu Belen; Omer Devecioglu; Zehra Fadoo; Allen E J Yeoh; Hans Christian Erichsen; Merja Mottonen; Himmet Haluk Akar; Johanna Hastbacka; Zuhre Kaya; Susana Nunes; Turkan Patiroglu; Magnus Sabel; Ebru Tugrul Saribeyoglu; Tor Henrik Tvedt; Ekrem Unal; Sule Unal; Aysegul Unuvar; Marie Meeths; Jan Inge Henter; Magnus Nordenskjold; Yenan T Bryceson; ...Mais
PUBLICAÇÃO: 2015, FONTE: GENOME MEDICINE, VOLUME: 7, NÚMERO: 1
INDEXADO EM: Scopus WOS CrossRef