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PubPharm (8)
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
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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3
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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4
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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5
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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6
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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7
Subtelomeric 6p25 deletion/duplication : Report of a patient with new clinical findings and genotype-phenotype correlations
enthalten in:
European journal of medical genetics
| 2015
von
Linhares, N.
|
Svartman, M.
|
Rodrigues, T.
| +2
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8
Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis
enthalten in:
European journal of medical genetics
| 2014
von
Linhares, N.
|
Freire, M.
|
Cardenas, R.
| +3
CommentIn: Eur J Med Genet. 2018 Feb;61(2):106. - PMID 28223207
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1
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Thema: Research Support, Non-U.S. Gov't
Medienart
8
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8
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Zeitschriftentitel
2
European journal of medical genetics
1
American journal of physiology. Heart and circu...
1
Biology of sex differences
1
Circulation
1
Journal of hypertension
1
Neurology
1
Pharmacogenomics
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Thema
Research Support, Non-U.S. Gov't
6
Journal Article
2
Case Reports
2
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2
Letter
1
6p deletion
1
9100L32L2N
1
Comparative genomic hybridization
1
Congenital generalized fibromatosis
1
DNA methylation
1
Egg Proteins
1
Ether-A-Go-Go Potassium Channels
1
Exome sequencing
1
FOXC1 protein, human
1
FOXF2 protein, human
1
Forkhead Transcription Factors
1
GDF15
1
GDF15 protein, human
1
GPI-Linked Proteins
1
Growth Differentiation Factor 15
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2020-
5
2010-2019
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