1-3 of 3
enzyme disorders
Close
Save search
Follow your search
Access your saved searches in your account
Would you like to receive an alert when new items match your search?
Close Modal
Sort by
Journal Articles

Towards an External Quality Assessment for Next Generation Sequencing in the Diagnosis of Rare Inherited Anaemias

Noemi Roy, MBBCH, MD, Melanie Proven, PhD, Irene Roberts, MD, Hannah Tamary, MD, Dorine W. Swinkels, MD PhD, Aguilar-Martinez Patricia, MD PhD, Paola Bianchi, BSc, PhD, Raffaella Colombatti, MD PhD, Roberta Russo, Barnaby Clark, Mayka Sanchez, MD, Rafael Andres DEL Orbe Barreto, Elisa Fermo, PhD, Vip Viprakasit, MD DPhil, Jiraporn Korchuenjit, BSc, Tabita Magalhães Maia, MD, Frances Smith, BSc, Maria del Mar Manu, BSc, PhD, Lydie Da Costa, Antonio Marzollo, Anabelen Hozdelarastrollo, Beatriz Arrizabalaga, MD PhD, Delasalle Barbara, Achille Iolascon, MD PhD
Journal: Blood
Blood (2018) 132 (Supplement 1): 4936.
https://doi.org/10.1182/blood-2018-99-111609
Published: 2018
Journal Articles

"in the Patients' Hands"- a Structured Survey of Patient Voices to Prioritise Research Questions in Rare Inherited Anaemias: The James Lind Alliance Priority Setting Partnership

Jenny Welch, Nick Meade, Dominic Messenger, Amy Hunter, Anupama Rao, MD, Subarna Chakravorty, Rachel Wearmouth, Anju Chalin, Kristina Staley, Sheela Upadhyaya, Irene Roberts, MD, Noemi Roy, MBBCH, MD
Journal: Blood
Blood (2018) 132 (Supplement 1): 5876.
https://doi.org/10.1182/blood-2018-99-115404
Published: 2018
Journal Articles

Clinical Application of Massively Parallel Sequencing in the Diagnosis of Hereditary Hemolytic and Dyserythropoietic Anemias

Harry Lesmana, MD, Georgios E Christakopoulos, MD, Katie Giger Seu, PhD, Mary Risinger, PhD, Hatice Duzkale, MD MPH, PhD, Neha Dagaonkar, Kejian Zhang, MD, Theodosia A Kalfa, MD PhD
Journal: Blood
Blood (2016) 128 (22): 4746.
https://doi.org/10.1182/blood.V128.22.4746.4746
Published: 2016