Concepedia

Eva Rudd

ER

Statistics

Publications

9

Citations

786

H-Index

9

Active since

2007

Affiliations

Karolinska University Hospital(Current)

Karolinska Institutet

The University of Queensland

University Medical Center Utrecht

Oslo University Hospital

Eva Rudd is an author at Karolinska University Hospital specializing in medicine, pathology, and hematology.

Top concepts

Publications per year

2007–2016

9

Publications

9

Defective cytotoxic lymphocyte degranulation in syntaxin-11–deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients

Yenan T. Bryceson, Eva Rudd, Chengyun Zheng et al. · Blood · 2007 · 303 citations · Full text

TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons

Xavier Caubit, Paolo Gubellini, Joris Andrieux et al. · Nature Genetics · 2016 · 141 citations · Full text

, , +14

Clinical presentation of Griscelli syndrome type 2 and spectrum of <i>RAB27A</i> mutations

Marie Meeths, Yenan T. Bryceson, Eva Rudd et al. · Pediatric Blood & Cancer · 2009 · 94 citations

Characterization of <i>PRF1</i>, <i>STX11</i> and <i>UNC13D</i> genotype‐phenotype correlations in familial hemophagocytic lymphohistiocytosis

AnnaCarin Horne, Kim Ramme, Eva Rudd et al. · British Journal of Haematology · 2008 · 91 citations

, , +17

Spectrum, and clinical and functional implications of <i>UNC13D</i> mutations in familial haemophagocytic lymphohistiocytosis

Eva Rudd, Yenan T. Bryceson, Chengyun Zheng et al. · Journal of Medical Genetics · 2007 · 62 citations

1–5 of 9