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Author/Creator Entesarian, Miriam

1. Novel deep intronic and missense UNC13D mutations in familial haemophagocytic lymphohistiocytosis type 3. (14th May 2013)

Authors:
Entesarian, Miriam; Chiang, Samuel C. C.; Schlums, Heinrich; Meeths, Marie; Chan, Mei‐Yoke; Mya, Soe‐Nwe; Soh, Shui‐Yen; Nordenskjöld, Magnus; Henter, Jan‐Inge; Bryceson, Yenan T.
Journal:
British journal of haematology
Issue:
Volume 162:Number 3(2013:Aug.)
Page Start:
415
Record Type:
Journal Article
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2. Severe congenital neutropenia‐associated JAGN1 mutations unleash a calpain‐dependent cell death programme in myeloid cells. (18th November 2020)

Authors:
Khandagale, Avinash; Holmlund, Teresa; Entesarian, Miriam; Nilsson, Daniel; Kalwak, Krzysztof; Klaudel‐Dreszler, Maja; Carlsson, Göran; Henter, Jan‐Inge; Nordenskjöld, Magnus; Fadeel, Bengt
Journal:
British journal of haematology
Issue:
Volume 192:Number 1(2021)
Page Start:
200
Record Type:
Journal Article
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3. Welander Distal Myopathy Caused by an Ancient Founder Mutation in TIA1 Associated with Perturbed Splicing. Issue 4 (20th March 2013)

Authors:
Klar, Joakim; Sobol, Maria; Melberg, Atle; Mäbert, Katrin; Ameur, Adam; Johansson, Anna C.V.; Feuk, Lars; Entesarian, Miriam; Örlén, Hanna; Casar‐Borota, Olivera; Dahl, Niklas
Journal:
Human mutation
Issue:
Volume 34:Issue 4(2013:Apr.)
Page Start:
572
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗