1-3 of 3
shprintzen syndrome
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

Velocardiofacial Syndrome (VCF): Presentation with and Management of Immune Cytopenias.

Angeli Rampersad, MB, BS, Scott Ceresnak, MD, James B. Bussel, MD
Journal: Blood
Blood (2006) 108 (11): 3986.
https://doi.org/10.1182/blood.V108.11.3986.3986
Published: 2006
Journal Articles

T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome

Lisa M. Piliero, Amy N. Sanford, Donna M. McDonald-McGinn, Elaine H. Zackai, Kathleen E. Sullivan
Journal: Blood
Blood (2004) 103 (3): 1020–1025.
https://doi.org/10.1182/blood-2003-08-2824
Published: 2004