Lista de obras -

11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia

artículo científico publicado en 2013

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

artículo científico publicado en 2017

Clinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelic WDR35 mutations

artículo científico publicado en 2017

Co-occurrence of Jalili syndrome and muscular overgrowth.

artículo científico publicado en 2017

Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease

artículo científico publicado en 2020

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

Granular corneal dystrophy in 830-nm spectral optical coherence tomography

artículo científico publicado en 2008

Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate Diagnosis

artículo científico publicado en 2022

Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations.

artículo científico publicado en 2017

Non-syndromic anophthalmia/microphthalmia can be caused by a PORCN variant inherited in X-linked recessive manner

artículo científico publicado en 2020

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

scientific article published on 12 December 2018

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

artículo científico publicado en 2018

PAX6 3' deletion in a family with aniridia

artículo científico publicado en 2011

Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants in WDR35

scientific article published on 17 August 2020

Severe manifestation of Leber's hereditary optic neuropathy due to 11778G>A mtDNA mutation in a female with hypoestrogenism due to Perrault syndrome

artículo científico publicado en 2013

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

artículo científico publicado en 2015

The genetics of aniridia - simple things become complicated

artículo científico publicado en 2018

Two sisters with microphthalmia and anterior segment dysgenesis secondary to a PAX6 pathogenic variant with clinically healthy parents: a case of gonadal mosaicism?

scientific article published on 03 February 2020

[Genetic basis of hereditary optic atrophies]

scientific article published on 01 January 2007

Lista de obras de

11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia

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

Clinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelic WDR35 mutations

Co-occurrence of Jalili syndrome and muscular overgrowth.

Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease

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)

Granular corneal dystrophy in 830-nm spectral optical coherence tomography

Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate Diagnosis

Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations.

Non-syndromic anophthalmia/microphthalmia can be caused by a PORCN variant inherited in X-linked recessive manner

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

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

PAX6 3' deletion in a family with aniridia

Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants in WDR35

Severe manifestation of Leber's hereditary optic neuropathy due to 11778G>A mtDNA mutation in a female with hypoestrogenism due to Perrault syndrome

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

The genetics of aniridia - simple things become complicated

Two sisters with microphthalmia and anterior segment dysgenesis secondary to a PAX6 pathogenic variant with clinically healthy parents: a case of gonadal mosaicism?

[Genetic basis of hereditary optic atrophies]