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Blood|September 6, 2005
Congenital dyserythropoietic anemia type I (CDA I): molecular genetics, clinical appearance, and prognosis based on long-term observationHermann Heimpel, Klaus Schwarz, Monika Ebnöther, et al.
American Journal of Hematology|March 9, 2018
A comparative prospective observational study of children and adults with immune thrombocytopenia: 2-year follow-upAlexandra Schifferli, Andreas Holbro, Meera Chitlur, et al.
Blood|May 31, 2015
Triallelic and epigenetic-like inheritance in human disorders of telomeraseLaura C Collopy, Amanda J Walne, Shirleny Cardoso, et al.
American Journal of Hematology|January 8, 2010
Genetic variants in the noncoding region of RPS19 gene in Diamond-Blackfan anemia: potential implications for phenotypic heterogeneityAurore Crétien, Alexis Proust, Jean Delaunay, et al.
Gene|January 17, 2017
X-linked elliptocytosis with impaired growth is related to mutated AMMECR1Lina Basel-Vanagaite, Nir Pillar, Ofer Isakov, et al.
Blood|July 31, 2015
Effects of eltrombopag on platelet count and platelet activation in Wiskott-Aldrich syndrome/X-linked thrombocytopeniaAnja J Gerrits, Emily A Leven, Andrew L Frelinger, et al.
Cell|November 19, 2003
Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3)Jérôme Feldmann, Isabelle Callebaut, Graça Raposo, et al.
British Journal of Haematology|August 16, 2005
Clinical and molecular variability in congenital dyserythropoietic anaemia type IHannah Tamary, Orly Dgany, Alexis Proust, et al.
Pediatric Blood & Cancer|October 7, 2014
Genetic analysis and clinical picture of severe congenital neutropenia in IsraelAsaf Lebel, Joanne Yacobovich, Tanya Krasnov, et al.
British Journal of Haematology|November 20, 2023
Biallelic hypomorphic variants in CAD cause uridine-responsive macrocytic anaemia with elevated haemoglobin-A2Orna Steinberg-Shemer, Joanne Yacobovich, Sharon Noy-Lotan, et al.
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