Suchergebnisse - "Linhares, Natália D"

PubPharm (10)

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

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

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

4

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

5

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

6

Familial STAG2 germline mutation defines a new human cohesinopathy

enthalten in: NPJ genomic medicine | 2017

von Soardi, F. | Machado-Silva, A. | Linhares, N. | +14

7

Inherited Xq13.2-q21.31 duplication in a boy with recurrent seizures and pubertal gynecomastia : Clinical, chromosomal and aCGH characterization

enthalten in: Meta gene | 2016

von Linhares, N. | Valadares, E. | da Costa, S. | +5

8

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

9

Dental developmental abnormalities in a patient with subtelomeric 7q36 deletion syndrome may confirm a novel role for the SHH gene

enthalten in: Meta gene | 2014

von Linhares, N. | Svartman, M. | Salgado, M. | +4

10

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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