about
A human immunodeficiency syndrome caused by mutations in CARMIL21p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency.Inherited Xq13.2-q21.31 duplication in a boy with recurrent seizures and pubertal gynecomastia: Clinical, chromosomal and aCGH characterization.Dental developmental abnormalities in a patient with subtelomeric 7q36 deletion syndrome may confirm a novel role for the SHH geneFamilial STAG2 germline mutation defines a new human cohesinopathy.X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells.Subtelomeric 6p25 deletion/duplication: Report of a patient with new clinical findings and genotype-phenotype correlations."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.Modulation of expressivity in PDGFRB-related infantile myofibromatosis: a role for PTPRG?GENETIC DELETION OF THE ALAMANDINE RECEPTOR MRGD LEADS TO DILATED CARDIOMYOPATHY IN MICEExome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosisNephrotic syndrome and adrenal insufficiency caused by a variant in SGPL1
P50
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P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Natália D Linhares
@ast
Natália D Linhares
@en
Natália D Linhares
@es
Natália D Linhares
@nl
type
label
Natália D Linhares
@ast
Natália D Linhares
@en
Natália D Linhares
@es
Natália D Linhares
@nl
prefLabel
Natália D Linhares
@ast
Natália D Linhares
@en
Natália D Linhares
@es
Natália D Linhares
@nl
P106
P1153
55956121200
P21
P31
P496
0000-0001-7879-0450