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PubPharm (17)
1
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5
enthalten in:
Neurology
| 2023
von
Happ, H.
|
Sadleir, L.
|
Zemel, M.
| +52
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2
Structural analysis of new compound heterozygous variants in PEPD gene identified in a patient with Prolidase Deficiency diagnosed by exome sequencing
enthalten in:
Genetics and molecular biology
| 2021
von
Linhares, N.
|
Wilk, P.
|
Wątor, E.
| +3
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3
Noncoding SNPs associated with increased GDF15 levels located in a metformin-activated enhancer region upstream of GDF15
enthalten in:
Pharmacogenomics
| 2020
von
Linhares, N.
|
Pereira, D.
|
Conceição, I.
| +4
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4
Candidate genes identified by whole-exome sequencing in preeclampsia families : insights into functional annotation and in-silico prediction of deleterious variants
enthalten in:
Journal of hypertension
| 2020
von
Linhares, N.
|
Conceição, I.
|
Sandrim, V.
| +1
CommentOn: J Hypertens. 2019 May;37(5):997-1011. - PMID 30633125
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5
Noncoding SNPs associated with increased GDF15 levels located in a metformin-activated enhancer region upstream ofGDF15
enthalten in:
Pharmacogenomics
| 2020
von
Linhares, N.
|
Pereira, D.
|
Conceição, I.
| +4
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6
Letter by Linhares et al Regarding Article, "Cardiomyopathy and Preeclampsia : Shared Genetics?"
enthalten in:
Circulation
| 2019
von
Linhares, N.
|
Conceição, I.
|
Luizon, M.
CommentOn: Circulation. 2018 Nov 20;138(21):2359-2366. - PMID 30021846
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7
Genetic deletion of the alamandine receptor MRGD leads to dilated cardiomyopathy in mice
enthalten in:
American journal of physiology. Heart and circulatory physiology
| 2019
von
Oliveira, A.
|
Melo, M.
|
Motta-Santos, D.
| +16
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8
X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells
enthalten in:
Biology of sex differences
| 2018
von
Ho, B.
|
Greenlaw, K.
|
Al Tuwaijri, A.
| +13
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9
X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells
enthalten in:
Biology of sex differences
| 2018
von
Ho, B.
|
Greenlaw, K.
|
Al Tuwaijri, A.
| +13
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10
X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells
enthalten in:
Biology of sex differences
| 2018
von
Ho, B.
|
Greenlaw, K.
|
Al Tuwaijri, A.
| +13
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16
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4
European journal of medical genetics
3
Biology of sex differences
2
Meta gene
2
Pharmacogenomics
1
American journal of physiology. Heart and circu...
1
Circulation
1
Genetics and molecular biology
1
Journal of hypertension
1
NPJ genomic medicine
1
Neurology
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8
Research Support, Non-U.S. Gov't
3
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3
DNA methylation
3
Letter
3
Sex
3
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3
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2
CNV, copy number variation
2
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2
Comparative genomic hybridization
2
FISH, fluorescence in situ hybridization
2
Muscle Proteins
2
NDRG4 protein, human
2
Nerve Tissue Proteins
2
OFC, occipitofrontal circumference
2
aCGH, array comparative genomic hybridization
1
5-BrdU, 5-bromodeoxyuridine
1
6p deletion
1
7q deletion
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2020-
12
2010-2019
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