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1 . Academic Journal
Catheter Intervention in a Patient with Intracranial Aneurysms and Glanzmann Thrombasthenia Caused by a Novel Homozygous Likely Pathogenic Variant in the ITGA2B Gene
저자
by
Doris Boeckelmann
;
Lara von Dobeneck
;
Hans Henkes
;
Hermann Eichler
;
Hannah Glonnegger
, et al.
소스
Diseases, Vol 12, Iss 7, p 136 (2024)
Open Access (DOAJ)
Web of Science
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7 . Academic Journal
Novel variant in HPS3 gene in a patient with Hermansky Pudlak syndrome (HPS) type 3
저자
by
Anna Lecchi
;
Silvia La Marca
;
Eti A Femia
;
Antonia Lenz
;
Doris Boeckelmann
, et al.
소스
Platelets, Vol 31, Iss 7, Pp 960-963 (2020)
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Scopus
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7 . Academic Journal
Hermansky-Pudlak Syndrome: Identification of Novel Variants in the Genes HPS3, HPS5, and DTNBP1 (HPS-7)
저자
by
Doris Boeckelmann
;
Mira Wolter
;
Katharina Neubauer
;
Felix Sobotta
;
Antonia Lenz
, et al.
소스
Frontiers in Pharmacology, Vol 12 (2022)
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7 . Academic Journal
Glanzmann Thrombasthenia in Pakistani Patients: Identification of 7 Novel Pathogenic Variants in the Fibrinogen Receptor αIIbβ3
저자
by
Muhammad Younus Jamal Siddiqi
;
Doris Boeckelmann
;
Arshi Naz
;
Ayisha Imran
;
Shariq Ahmed
, et al.
소스
Cells, Vol 12, Iss 2, p 213 (2023)
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7 . Academic Journal
A Novel GATA1 Variant in the C-Terminal Zinc Finger Compared with the Platelet Phenotype of Patients with A Likely Pathogenic Variant in the N-Terminal Zinc Finger
저자
by
José M. Bastida
;
Stefano Malvestiti
;
Doris Boeckelmann
;
Verónica Palma-Barqueros
;
Mira Wolter
, et al.
소스
Cells, Vol 11, Iss 20, p 3223 (2022)
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7 . Academic Journal
A Novel Likely Pathogenic Variant in the BLOC1S5 Gene Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human BLOC-1 Deficiencies
저자
by
Doris Boeckelmann
;
Mira Wolter
;
Barbara Käsmann-Kellner
;
Udo Koehler
;
Lea Schieber-Nakamura
, et al.
소스
Cells, Vol 10, Iss 10, p 2630 (2021)
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7 .
Novel Likely Pathogenic Variant in the A3 Domain of von Willebrand Factor Leading to a Collagen-Binding Defect
저자
by
Salome Fels
;
Doris Boeckelmann
;
Hannah Glonnegger
;
Martin Büchsel
;
Barbara Zieger
.
소스
Hämostaseologie
. 43:122-125
Web of Science
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7 .
Novel GNE Gene Variants Associated with Severe Congenital Thrombocytopenia and Platelet Sialylation Defect
저자
by
Barbara Zieger
;
Doris Boeckelmann
;
Waseem Anani
;
Hervé Falet
;
Jieqing Zhu
, et al.
소스
Thromb Haemost
Open Access (OpenAIRE)
Scopus
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7 .
Pathogenic Aspects of Inherited Platelet Disorders
저자
by
Doris Boeckelmann
;
Hannah Glonnegger
;
Kirstin Sandrock-Lang
;
Barbara Zieger
.
소스
Hamostaseologie
. 41(6)
Scopus
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6 .
Next-generation sequencing identified different types of Hermansky-Pudlak syndrome associated with phenotype variability
저자
by
Barbara Zieger
;
F Sobotta
;
Salome Fels
;
Antonia Lenz
;
H Glonnegger
, et al.
소스
65th Annual Meeting of the Society of Thrombosis and Haemostasis Research
.
Scopus
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