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PubPharm (111)
1
Novel uAUG creating variants in the 5’UTR of ENG causing Hereditary Hemorrhagic Telangiectasia
enthalten in:
bioRxiv.org
| 2024
von
Soukarieh, O.
|
Tillet, E.
|
Proust, C.
| +6
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2
Pulmonary vascular phenotype identified in patients with GDF2 (BMP9) or BMP10 variants : an international multicentre study
enthalten in:
The European respiratory journal
| 2024
von
Grynblat, J.
|
Bogaard, H.
|
Eyries, M.
| +18
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3
Role of KCNK3 Dysfunction in Dasatinib-associated PAH and Endothelial Cell Dysfunction
enthalten in:
American journal of respiratory cell and molecular biology
| 2024
von
Le Ribeuz, H.
|
Saint-Martin Willer, A.
|
Chevalier, B.
| +20
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4
Pulmonary Veno-Occlusive Disease and Pulmonary Fibrosis in a Family with EIF2AK4 Pathogenic Variants
enthalten in:
American journal of respiratory cell and molecular biology
| 2024
von
Vetel, K.
|
Eyries, M.
|
Savale, L.
| +4
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5
Outcomes and risk assessment in pulmonary veno-occlusive disease
enthalten in:
ERJ open research
| 2024
von
Boucly, A.
|
Solinas, S.
|
Beurnier, A.
| +15
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6
Late-Onset Status Epilepticus Associated With Isolated Leptomeningeal Angioma and Sturge-Weber Syndrome-Related GNA11 Pathogenic Variation
enthalten in:
Neurology
| 2023
von
Cousyn, L.
|
Leclercq, D.
|
Ta, M.
| +7
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7
Defining the clinical validity of genes reported to cause pulmonary arterial hypertension
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2023
von
Welch, C.
|
Aldred, M.
|
Balachandar, S.
| +75
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8
uAUG creating variants in the 5'UTR of ENG causing Hereditary Hemorrhagic Telangiectasia
enthalten in:
NPJ genomic medicine
| 2023
von
Soukarieh, O.
|
Tillet, E.
|
Proust, C.
| +6
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9
Seven cases of hereditary haemorrhagic telangiectasia-like hepatic vascular abnormalities associated with EPHB4 pathogenic variants
enthalten in:
Journal of medical genetics
| 2023
von
Guilhem, A.
|
Dupuis-Girod, S.
|
Espitia, O.
| +16
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10
Isolated Pulmonary Arteriovenous Malformations Associated With BMPR2 Pathogenic Variants
enthalten in:
Chest
| 2023
von
Kularatne, M.
|
Eyries, M.
|
Savale, L.
| +2
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The European respiratory journal
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Thema
57
Journal Article
30
Research Support, Non-U.S. Gov't
21
EC 2.7.11.30
18
Bone Morphogenetic Protein Receptors, Type II
13
BMPR2 protein, human
10
ACVRL1 protein, human
10
Activin Receptors, Type II
9
Case Reports
9
EC 2.7.11.1
8
EIF2AK4 protein, human
8
Protein Serine-Threonine Kinases
8
Research Support, N.I.H., Extramural
8
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7
Letter
7
T-Box Domain Proteins
7
TBX4 protein, human
6
Bone Morphogenetic Proteins
6
GDF2 protein, human
6
Growth Differentiation Factor 2
5
ACVRL1
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