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Blood
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January 9, 2017
Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia
Suthesh Sivapalaratnam, Sarah K Westbury, Jonathan C Stephens, et al.
Haematologica
|
July 25, 2020
Cell type-specific novel long non-coding RNA and circular RNA in the BLUEPRINT hematopoietic transcriptomes atlas
Luigi Grassi, Osagie G Izuogu, Natasha A N Jorge, et al.
Haematologica
|
April 24, 2025
Production of platelets <i>in vitro</i> in functionalised 3-dimensional scaffolds mimicking the bone marrow niche
Holly R Foster, Maria Colzani, Guenaelle Bouet, et al.
Blood
|
June 15, 2018
Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice
Inga Hofmann, Mitchell J Geer, Timo Vögtle, et al.
Blood
|
June 21, 2019
Germline mutations in the transcription factor IKZF5 cause thrombocytopenia
Claire Lentaigne, Daniel Greene, Suthesh Sivapalaratnam, et al.
Nature Genetics
|
March 30, 2026
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder
Daniel Greene, Rodrigo Mendez, Jon Lees, et al.
Nature Genetics
|
April 23, 2026
Publisher Correction: Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder
Daniel Greene, Rodrigo Mendez, Jon Lees, et al.
Nature Medicine
|
March 17, 2023
Genetic association analysis of 77,539 genomes reveals rare disease etiologies
Daniel Greene, , Daniela Pirri, et al.
The Journal of Clinical Investigation
|
January 31, 2017
Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia
Irina Pleines, Joanne Woods, Stephane Chappaz, et al.
Brain : a Journal of Neurology
|
April 1, 2025
Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism
Holger Hengel, Shabab B Hannan, Selina Reich, et al.
Page
of 9
Search research articles
Search
Showing results (51-60 of 81) with videos related to
Sort By:
Page
of 9
Blood
|
January 9, 2017
Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia
Suthesh Sivapalaratnam, Sarah K Westbury, Jonathan C Stephens, et al.
Haematologica
|
July 25, 2020
Cell type-specific novel long non-coding RNA and circular RNA in the BLUEPRINT hematopoietic transcriptomes atlas
Luigi Grassi, Osagie G Izuogu, Natasha A N Jorge, et al.
Haematologica
|
April 24, 2025
Production of platelets <i>in vitro</i> in functionalised 3-dimensional scaffolds mimicking the bone marrow niche
Holly R Foster, Maria Colzani, Guenaelle Bouet, et al.
Blood
|
June 15, 2018
Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice
Inga Hofmann, Mitchell J Geer, Timo Vögtle, et al.
Blood
|
June 21, 2019
Germline mutations in the transcription factor IKZF5 cause thrombocytopenia
Claire Lentaigne, Daniel Greene, Suthesh Sivapalaratnam, et al.
Nature Genetics
|
March 30, 2026
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder
Daniel Greene, Rodrigo Mendez, Jon Lees, et al.
Nature Genetics
|
April 23, 2026
Publisher Correction: Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder
Daniel Greene, Rodrigo Mendez, Jon Lees, et al.
Nature Medicine
|
March 17, 2023
Genetic association analysis of 77,539 genomes reveals rare disease etiologies
Daniel Greene, , Daniela Pirri, et al.
The Journal of Clinical Investigation
|
January 31, 2017
Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia
Irina Pleines, Joanne Woods, Stephane Chappaz, et al.
Brain : a Journal of Neurology
|
April 1, 2025
Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism
Holger Hengel, Shabab B Hannan, Selina Reich, et al.
Page
of 9