Suchergebnisse - "Linhares, Natália D"

PubPharm (17)

11

"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

enthalten in: European journal of medical genetics | 2018

von Linhares, N. | Freire, M. | Cardenas, R. | +3

CommentOn: Eur J Med Genet. 2014 Nov-Dec;57(11-12):643-8. - PMID 25241110

12

Familial STAG2 germline mutation defines a new human cohesinopathy

enthalten in: NPJ genomic medicine | 2017

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

13

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

14

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

15

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

16

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

17

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