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C

Carlos David Bruque

Uppsala University

H指数:8

被引数:308

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In silico and in vivo analyses of a novel variant in MYO6 identified in a family with postlingual non-syndromic hearing loss from Argentina

genomics proteomics bioinformatics

IF2.8

2024-12-110

OAAI

Evolutionary and functional analyses of LRP5 in archaic and extant modern humans

IF4.3

2024-05-270

OAAI

From in-silico screening to in-vitro evaluation: Enhancing the detection of Microcystins with engineered PP1 mutant variants

JOURNAL OF STRUCTURAL BIOLOGY

IF5.1

2023-12-010

PRE

Genetic Analysis in a Familial Case With High Bone Mineral Density Suggests Additive Effects at Two Loci

IF2.4

2022-02-182

OAAI

Predicting pathogenicity for novel hearing loss mutations based on genetic and protein structure approaches

基于遗传和蛋白质结构方法预测新型听力损失突变的致病性

SCIENTIFIC REPORTS

IF3.9

2022-01-0711

OAAI

An update on genetic variants of the NKX2-5

IF3.7

2020-05-2214

OAAI

Genetic characterization of a large cohort of Argentine 21-hydroxylase Deficiency

一大群阿根廷21-羟化酶缺乏症的遗传特征

CLINICAL ENDOCRINOLOGY

IF2.4

2020-05-034

PREAI

Prognostic significance of α- and β2-adrenoceptor gene expression in breast cancer patients

BRITISH JOURNAL OF CLINICAL PHARMACOLOGY

IF3

2019-07-3129

OAAI

CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants

IF3.7

2017-11-0671

OAAI

Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations

SCIENTIFIC REPORTS

IF3.9

2016-12-1415

OAAI

Misregulation effect of a novel allelic variant in the Z promoter region found in cis with the CYP21A2 p.P482S mutation: implications for 21-hydroxylase deficiency

IF2.9

2015-07-173

PREAI