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/vufind/Search/Results?lookfor=%22Prapa%2C+Matina%22&type=Person&sort=year
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PubPharm (26)
1
Defining the Clinical Validity of Genes Reported to Cause Pulmonary Arterial Hypertension
enthalten in:
bioRxiv.org
| 2024
von
Welch, C.
|
Aldred, M.
|
Balachandar, S.
| +11
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2
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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3
Large-scale evaluation of outcomes following a genetic diagnosis in children with severe developmental disorders
enthalten in:
bioRxiv.org
| 2023
von
Copeland, H.
|
Low, K.
|
Wynn, S.
| +89
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4
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
enthalten in:
American journal of human genetics
| 2023
von
Rots, D.
|
Jakub, T.
|
Keung, C.
| +99
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5
Molecular Function and Contribution of TBX4 in Development and Disease
enthalten in:
American journal of respiratory and critical care medicine
| 2023
von
Karolak, J.
|
Welch, C.
|
Mosimann, C.
| +18
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6
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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7
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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8
'There and Back Again'-Forward Genetics and Reverse Phenotyping in Pulmonary Arterial Hypertension
enthalten in:
Genes
| 2020
von
Swietlik, E.
|
Prapa, M.
|
Martin, J.
| +4
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9
Taking consent for neonatal microarray analysis as a screen for genomic rearrangements : are paediatricians equipped for the genomic era?
enthalten in:
Archives of disease in childhood
| 2020
von
Andrews, K.
|
Prapa, M.
|
Radford, E.
| +3
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10
ADA2 deficiency complicated by EBV-driven lymphoproliferative disease
enthalten in:
Clinical immunology (Orlando, Fla.)
| 2020
von
Staples, E.
|
Simeoni, I.
|
Stephens, J.
| +14
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International journal of cardiology
3
bioRxiv.org
2
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1
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1
American journal of medical genetics. Part A
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15
Journal Article
11
Research Support, Non-U.S. Gov't
4
Case Reports
4
pulmonary arterial hypertension
3
570
3
Biology
3
Bone Morphogenetic Protein Receptors, Type II
3
EC 2.7.11.30
2
EC 2.7.11.1
2
Genetics
2
Letter
2
Protein Serine-Threonine Kinases
2
Pulmonary arterial hypertension
2
Research Support, N.I.H., Extramural
2
Review
2
T-Box Domain Proteins
2
TBX4 protein, human
1
114471-18-0
1
ACVRL1 protein, human
1
ADA2
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2020-
16
2010-2019
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