Filtros de búsqueda

Lista de obras de Agnieszka Koppolu

A Novel Monoallelic Nonsense Mutation in the NFKB2 Gene Does Not Cause a Clinical Manifestation

article published 2019

A case of severe trichothiodystrophy 3 in a neonate due to mutation in the GTF2H5 gene: Clinical report

article

A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa.

artículo científico publicado en 2017

A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy - a case report and review of the genotype-phenotype correlation.

artículo científico publicado en 2017

AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant

scientific article published on 12 March 2020

Advances in genetic hearing loss: CIB2 gene

artículo científico publicado en 2016

Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases.

artículo científico publicado en 2017

Brain Tissue Low-Level Mosaicism for MTOR Mutation Causes Smith–Kingsmore Phenotype with Recurrent Hypoglycemia—A Novel Phenotype and a Further Proof for Testing of an Affected Tissue

artículo científico publicado en 2021

Clinico-pathological correlation in case of BRAT1 mutation

artículo científico publicado en 2018

Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation

article

FARSA mutations mimic phenylalanyl-tRNA synthetase deficiency caused by FARSB defects

artículo científico publicado en 2019

Gene Expression Profile of Human Mesenchymal Stromal Cells Exposed to Hypoxic and Pseudohypoxic Preconditioning—An Analysis by RNA Sequencing ⬇️

artículo científico

Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to , and as novel candidates for genes causing human Mendelian disorders

article

Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression

scientific article published on 25 September 2018

Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome.

artículo científico publicado en 2018

Dominio Público Uruguay está sostenido por:

Acerca de Dominio Público Uruguay

Ayuda