Lista de obras -

A Comparative Analysis of MC4R Gene Sequence, Polymorphism, and Chromosomal Localization in Chinese Raccoon Dog and Arctic Fox

artículo científico publicado en 2012

Achromatopsia mutations target sequential steps of ATF6 activation.

scientific article published on 27 December 2016

Alström syndrome: A case report of the Polish family and a brief review of the differential diagnosis

artículo científico publicado en 2017

Association of MC3R gene polymorphisms with body weight in the red fox and comparative gene organization in four canids.

artículo científico publicado en 2011

Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene.

artículo científico publicado en 2017

Co-occurrence of Jalili syndrome and muscular overgrowth

artículo científico publicado en 2017

Differential diagnosis of Norrie disease and X-linked familial exudative vitreoretinopathy (XL-FEVR) based on clinical and molecular evaluation

artículo científico publicado en 2016

Five novel CNGB3 gene mutations in Polish patients with achromatopsia

artículo científico publicado en 2014

Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe)

artículo científico publicado en 2015

Integrating clinical and genetic approaches in the diagnosis of 46,XY disorder of sex development

article

Next-generation sequencing reveals three novel variants in Polish patients with Usher syndrome

artículo científico publicado en 2018

Novel CHM mutations in Polish patients with choroideremia - an orphan disease with close perspective of treatment

scientific article published on 12 December 2018

Novel gene variants in Polish patients with Leber congenital amaurosis (LCA)

artículo científico publicado en 2020

Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy

artículo científico publicado en 2018

Polymorphic variants within a putative upstream open reading frame of the MC4R gene do not affect body weight of farmed red foxes

artículo científico publicado en 2011

Polymorphism and chromosomal location of the MC4R (melanocortin-4 receptor) gene in the dog and red fox.

artículo científico publicado en 2007

Polymorphisms in 5′-flanking regions of genes encoding adiponectin, leptin, and resistin are not associated with obesity of Polish children and adolescents

artículo científico publicado en 2010

The coincidence of two ultra-rare hereditary eye diseases: gyrate atrophy and Kjer optic atrophy - a surprising diagnosis based on next-generation sequencing

artículo científico publicado en 2021

The first case of Oguchi disease, type 2 in a Polish patient with confirmed GRK1 gene mutation.

artículo científico publicado en 2015

The pig CART (cocaine- and amphetamine-regulated transcript) gene and association of its microsatellite polymorphism with production traits

artículo científico publicado en 2009

Lista de obras de

A Comparative Analysis of MC4R Gene Sequence, Polymorphism, and Chromosomal Localization in Chinese Raccoon Dog and Arctic Fox

Achromatopsia mutations target sequential steps of ATF6 activation.

Alström syndrome: A case report of the Polish family and a brief review of the differential diagnosis

Association of MC3R gene polymorphisms with body weight in the red fox and comparative gene organization in four canids.

Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene.

Co-occurrence of Jalili syndrome and muscular overgrowth

Differential diagnosis of Norrie disease and X-linked familial exudative vitreoretinopathy (XL-FEVR) based on clinical and molecular evaluation

Five novel CNGB3 gene mutations in Polish patients with achromatopsia

Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe)

Integrating clinical and genetic approaches in the diagnosis of 46,XY disorder of sex development

Next-generation sequencing reveals three novel variants in Polish patients with Usher syndrome

Novel CHM mutations in Polish patients with choroideremia - an orphan disease with close perspective of treatment

Novel gene variants in Polish patients with Leber congenital amaurosis (LCA)

Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy

Polymorphic variants within a putative upstream open reading frame of the MC4R gene do not affect body weight of farmed red foxes

Polymorphism and chromosomal location of the MC4R (melanocortin-4 receptor) gene in the dog and red fox.

Polymorphisms in 5′-flanking regions of genes encoding adiponectin, leptin, and resistin are not associated with obesity of Polish children and adolescents

The coincidence of two ultra-rare hereditary eye diseases: gyrate atrophy and Kjer optic atrophy - a surprising diagnosis based on next-generation sequencing

The first case of Oguchi disease, type 2 in a Polish patient with confirmed GRK1 gene mutation.

The pig CART (cocaine- and amphetamine-regulated transcript) gene and association of its microsatellite polymorphism with production traits