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Lista de obras de Natália D Linhares

"Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis (Linhares et al., 2014)" turns out to be EBV+ leiomyomatosis caused by CARMIL2 mutations.

artículo científico publicado en 2017

1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency.

artículo científico publicado en 2016

A human immunodeficiency syndrome caused by mutations in CARMIL2

artículo científico publicado en 2017

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

artículo científico publicado en 2013

Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis

scientific article published on 18 September 2014

Familial STAG2 germline mutation defines a new human cohesinopathy

artículo científico publicado en 2017

GENETIC DELETION OF THE ALAMANDINE RECEPTOR MRGD LEADS TO DILATED CARDIOMYOPATHY IN MICE

artículo científico publicado en 2018

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

artículo científico publicado en 2016

Modulation of expressivity in PDGFRB-related infantile myofibromatosis: a role for PTPRG?

artículo científico publicado en 2014

Nephrotic syndrome and adrenal insufficiency caused by a variant in SGPL1

scientific article published on 13 November 2017

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage Sensing and Pore Domain of KCNH5

artículo científico publicado en 2022

Subtelomeric 6p25 deletion/duplication: Report of a patient with new clinical findings and genotype-phenotype correlations.

artículo científico publicado en 2015

X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells.

artículo científico publicado en 2018

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