List of works - Anna Skorczyk-Werner

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

scientific article published in May 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

scientific article

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

scientific article published in February 2011

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

scientific article published on 16 August 2017

Co-occurrence of Jalili syndrome and muscular overgrowth.

scientific article published on 6 June 2017

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

scientific article published on 01 January 2016

Five novel CNGB3 gene mutations in Polish patients with achromatopsia

scientific article

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

scientific article

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

scientific article

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)

scientific article

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

scientific article

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

scientific article published on 21 October 2011

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

scientific article published on 19 January 2007

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

scientific article published on 15 September 2010

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

scientific article

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

scientific article

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

scientific article published in February 2009

List of works by Anna Skorczyk-Werner

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