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R

Rajiv D. Machado

St George's University of London
H指数:39
被引数:1.0万

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Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality
2021-09-0722
OAAI
Bayesian Inference Associates Rare KDR Variants With Specific Phenotypes in Pulmonary Arterial Hypertension

贝叶斯推断将罕见的KDR变异与肺动脉高压的特定表型相关联

2021-02-0135
OAAI
Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension

肺动脉高压中GDF2突变和BMP9和BMP10水平的表征

2020-03-0187
OAAI
Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis

肺动脉高压风险的遗传决定因素: 国际全基因组关联研究和荟萃分析

2019-03-01128
OAAI
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data (vol 8, 1300, 2018)
2018-09-030
OAAI
Identification of rare sequence variation underlying heritable pulmonary arterial hypertension

鉴定遗传性肺动脉高压的罕见序列变异

2018-04-12268
OAAI
Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension
2017-11-21112
OAAI
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects
2015-10-12188
OAAI
Impaired Natural Killer Cell Phenotype and Function in Idiopathic and Heritable Pulmonary Arterial Hypertension

特发性和遗传性肺动脉高压的自然杀伤细胞表型和功能受损

2012-08-2896
OAAI
Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension
2011-10-11151
OAAI
Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus (vol 38, pg 1242, 2006)
2011-06-282
OAAI
Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies
2011-05-01100
OAAI