Results 121 to 130 of about 3,635 (200)

Clinical Utility of a Targeted Next-Generation Sequencing Panel for Inherited Platelet Disorders in Children. [PDF]

Diagnostics (Basel)
Kaçar D, Altan M, Bayhan T, Yıldırım SF, Kurtipek FB, Arman Bilir Ö, Özbek NY, Yaralı N.   +7 more
europepmc   +1 more source

Molecular diagnosis of inherited platelet disorders: a tale of two realities - advanced vs. resource-limited setting. [PDF]

Thromb J
Safdari SM, Jozdani S, Mottaghizadeh-Jazi M, Shayanmanesh M, Khanahmad A, Bakhtiyaridovvombaygi M, Rezazadeh A, Tabibian S.   +7 more
europepmc   +1 more source

Diagnosis of congenital macrothrombocytopenia

Japanese Journal of Thrombosis and Hemostasis, 2011
openaire   +2 more sources

A systematic review of ABCG8 mutation and sitosterolemia. [PDF]

Am J Blood Res
Parekh D, Bassir A, Desai D, Ashok Kumar P, Ghimire K.   +4 more
europepmc   +1 more source

GFI1B mutations define an emerging form of inherited thrombocytopenia: insights from a case report and literature review. [PDF]

Ann Hematol
Urbański B, Bąbol-Pokora K, Braun M, Janczar S, Michalak M, Sałacińska-Łoś E, Młynarski W, Treliński J.   +7 more
europepmc   +1 more source

A Case Report of Thrombocytopenia Caused by a May-Hegglin Anomaly in a Young Saudi Female. [PDF]

J Investig Med High Impact Case Rep
Al-Ansari RY, Aljohani RR, Aljurbua RM, Alasmari AM, Abdellatif MF, Zakary N.   +5 more
europepmc   +1 more source

Bariatric Surgery for a Patient With Myosin Heavy Chain 9-Related Disorders (MYH9RD): A Case Report. [PDF]

J Metab Bariatr Surg
Kim SH, Park K, Kim C, Kim J, Kong SH, Lee HJ, Yang HK, Park DJ.   +7 more
europepmc   +1 more source

Successful kidney transplantation using eltrombopag in a patient with MYH9-related disease. [PDF]

CEN Case Rep
Kato A, Shirai Y, Kanda S, Kunishima S, Shimizu T, Ishida H, Hattori M, Miura K.   +7 more
europepmc   +1 more source

Hemostatic rescue with rFVIIa in Bernard-Soulier syndrome refractory to HLA-matched platelet transfusion. [PDF]

Ann Hematol
Okamoto Y, Mizumoto C, Yamashita K, Inoue S, Saito S, Morimoto N, Takaori-Kondo A.   +6 more
europepmc   +1 more source

Clinical and Molecular Spectrum of MYH9-Thrombocytopenia: Insights from a Single Centric Pediatric Cohort. [PDF]

Children (Basel)
Obrisca R, Serbanica A, Marcu A, Bica A, Jercan C, Avramescu I, Radu L, Jardan C, Colita A.   +8 more
europepmc   +1 more source