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PubPharm (134)
1
Adult height improved over decades in patients with X-linked hypophosphatemia : a cohort study
enthalten in:
European journal of endocrinology
| 2023
von
Boros, E.
|
Ertl, D.
|
Berkenou, J.
| +16
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2
First genotype-phenotype study in TBX4 syndrome: gain-of-function mutations causative for lung disease
enthalten in:
bioRxiv.org
| 2023
von
Prapa, M.
|
Lago-Docampo, M.
|
Swietlik, E.
| +37
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3
An emerging phenotype of pulmonary arterial hypertension patients carrying SOX17 variants
enthalten in:
The European respiratory journal
| 2022
von
Montani, D.
|
Lechartier, B.
|
Girerd, B.
| +19
CommentIn: Eur Respir J. 2022 Dec 8;60(6):. - PMID 37651375
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4
First Genotype-Phenotype Study in TBX4 Syndrome : Gain-of-Function Mutations Causative for Lung Disease
enthalten in:
American journal of respiratory and critical care medicine
| 2022
von
Prapa, M.
|
Lago-Docampo, M.
|
Swietlik, E.
| +40
CommentIn: Am J Respir Crit Care Med. 2022 Dec 15;206(12):1448-1449. - PMID 35925028
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5
Author Correction : Biological heterogeneity in idiopathic pulmonary arterial hypertension identified through unsupervised transcriptomic profiling of whole blood
enthalten in:
Nature communications
| 2022
von
Kariotis, S.
|
Jammeh, E.
|
Swietlik, E.
| +100
ErratumFor: Nat Commun. 2021 Dec 7;12(1):7104. - PMID 34876579
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6
Genetic determinants of risk and survival in pulmonary arterial hypertension
enthalten in:
bioRxiv.org
| 2022
von
Rhodes, C.
|
Batai, K.
|
Bleda, M.
| +116
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7
GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements
enthalten in:
Nature communications
| 2022
von
Dixon, P.
|
Levine, A.
|
Cebola, I.
| +121
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8
Screening for pulmonary veno-occlusive disease in heterozygous EIF2AK4 variant carriers
enthalten in:
The European respiratory journal
| 2022
von
Lechartier, B.
|
Girerd, B.
|
Eyries, M.
| +3
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9
Mining the Plasma Proteome for Insights into the Molecular Pathology of Pulmonary Arterial Hypertension
enthalten in:
American journal of respiratory and critical care medicine
| 2022
von
Harbaum, L.
|
Rhodes, C.
|
Wharton, J.
| +116
CommentIn: Am J Respir Crit Care Med. 2022 Jun 15;205(12):1377-1379. - PMID 35452380
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10
SUR1 As a New Therapeutic Target for Pulmonary Arterial Hypertension
enthalten in:
American journal of respiratory cell and molecular biology
| 2022
von
Le Ribeuz, H.
|
Masson, B.
|
Capuano, V.
| +12
CommentIn: Am J Respir Cell Mol Biol. 2022 May;66(5):476-478. - PMID 35238728
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134
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The European respiratory journal
23
American journal of respiratory and critical ca...
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Chest
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5
European respiratory review : an official journ...
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Nature communications
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Nature genetics
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The Lancet. Respiratory medicine
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bioRxiv.org
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Circulation. Genomic and precision medicine
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Current opinion in pulmonary medicine
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European journal of clinical investigation
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2
Human mutation
2
International journal of molecular sciences
2
Orphanet journal of rare diseases
2
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2
The Canadian journal of cardiology
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Thema
79
Journal Article
55
Research Support, Non-U.S. Gov't
27
Bone Morphogenetic Protein Receptors, Type II
27
EC 2.7.11.30
22
BMPR2 protein, human
13
Review
12
EC 2.7.11.1
12
EIF2AK4 protein, human
12
Letter
12
Protein Serine-Threonine Kinases
9
1HQ3YCN4GS
9
Nerve Tissue Proteins
9
Potassium Channels, Tandem Pore Domain
9
potassium channel subfamily K member 3
8
Research Support, N.I.H., Extramural
7
pulmonary arterial hypertension
7
pulmonary hypertension
6
hypertension, pulmonary
5
Biomarkers
5
Case Reports
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Erscheinungszeitraum
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2020-
98
2010-2019
4
2000-2009
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