Suchergebnisse - "Machado, Rajiv D."

PubPharm (52)

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

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

3

Genetic counselling and testing in pulmonary arterial hypertension : a consensus statement on behalf of the International Consortium for Genetic Studies in PAH

enthalten in: The European respiratory journal | 2023

von Eichstaedt, C. | Belge, C. | Chung, W. | +84

4

Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality

enthalten in: Journal of medical genetics | 2022

von Machado, R. | Welch, C. | Haimel, M. | +20

5

Genetic determinants of risk and survival in pulmonary arterial hypertension

enthalten in: bioRxiv.org | 2022

von Rhodes, C. | Batai, K. | Bleda, M. | +116

6

Bayesian inference associates rare KDR variants with specific phenotypes in pulmonary arterial hypertension

enthalten in: bioRxiv.org | 2021

von Swietlik, E. | Greene, D. | Zhu, N. | +54

7

Pulmonary Arterial Hypertension : A Deeper Evaluation of Genetic Risk in the -Omics Era

enthalten in: Genes | 2021

von Machado, R. | Southgate, L.

8

Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH

enthalten in: Genome medicine | 2021

von Zhu, N. | Swietlik, E. | Welch, C. | +126

ErratumIn: Genome Med. 2021 Jun 22;13(1):106. - PMID 34158098

9

Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension

enthalten in: Circulation. Genomic and precision medicine | 2020

von Swietlik, E. | Greene, D. | Zhu, N. | +56

10

Whole Exome Sequence Analysis Provides Novel Insights into the Genetic Framework of Childhood-Onset Pulmonary Arterial Hypertension

enthalten in: Genes | 2020

von Gelinas, S. | Benson, C. | Khan, M. | +4

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