Suchergebnisse - "Nurden, Paquita"

PubPharm (211)

21

Management of pregnancy for a patient with the new syndromic macrothrombocytopenia, DIAPH1-related disease

enthalten in: Platelets | 2018

von Nurden, P. | Nurden, A. | Favier, R. | +1

22

ADAP deficiency impairs megakaryocyte polarization with ectopic proplatelet release and causes microthrombocytopenia

enthalten in: Blood | 2018

von Spindler, M. | van Eeuwijk, J. | Schurr, Y. | +5

23

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

enthalten in: American journal of human genetics | 2018

von Ito, Y. | Carss, K. | Duarte, S. | +118

24

Nbeal2 interacts with Dock7, Sec16a, and Vac14

enthalten in: Blood | 2018

von Mayer, L. | Jasztal, M. | Pardo, M. | +15

CommentIn: Blood. 2018 Mar 1;131(9):949-950. - PMID 29496701

25

Mutations of the integrin αIIb/β3 intracytoplasmic salt bridge cause macrothrombocytopenia and enlarged platelet α-granules

enthalten in: American journal of hematology | 2018

von Favier, M. | Bordet, J. | Favier, R. | +8

26

High-throughput sequencing for rapid diagnosis of inherited platelet disorders : a case for a European consensus

enthalten in: Haematologica | 2018

von Nurden, A. | Nurden, P.

CommentOn: Haematologica. 2018 Jan;103(1):148-162. - PMID 28983057

27

Marked bleeding diathesis in patients with platelet dysfunction due to a novel mutation in RASGRP2, encoding CalDAG-GEFI (p.Gly305Asp)

enthalten in: Platelets | 2018

von Bermejo, E. | Alberto, M. | Paul, D. | +5

28

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

enthalten in: Circulation | 2017

von Hadinnapola, C. | Bleda, M. | Haimel, M. | +141

CommentIn: Circulation. 2017 Nov 21;136(21):2034-2036. - PMID 29158214

29

Platelet function and microparticle levels in atrial fibrillation : Changes during the acute episode

enthalten in: International journal of cardiology | 2017

von Pourtau, L. | Sellal, J. | Lacroix, R. | +8

CommentIn: Int J Cardiol. 2017 Sep 15;243:272-273. - PMID 28747029

30

Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding

enthalten in: Blood | 2017

von Westbury, S. | Canault, M. | Greene, D. | +19