Four novel RS1 gene mutations in Polish patients with X-linked juvenile retinoschisis

por Skorczyk, Anna, Krawczyński, Maciej R.
Publicado 2012

The genetics of aniridia — simple things become complicated

por Wawrocka, Anna, Krawczynski, Maciej R.
Publicado 2018

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

por Wawrocka, Anna, Sikora, Agata, Kuszel, Lukasz, Krawczynski, Maciej R.
Publicado 2013

Molecular Re-Diagnosis with Whole-Exome Sequencing Increases the Diagnostic Yield in Patients with Non-Syndromic Retinitis Pigmentosa

por Wawrocka, Anna, Socha, Magdalena, Walczak-Sztulpa, Joanna, Koczyk, Grzegorz, Skorczyk-Werner, Anna, Krawczyński, Maciej R.
Publicado 2023

CDHR1-Related Cone–Rod Dystrophy: Clinical Characteristics, Imaging Findings, and Genetic Test Results—A Case Report

por Sobolewska, Małgorzata, Świerczyńska, Marta, Dorecka, Mariola, Wyględowska-Promieńska, Dorota, Krawczyński, Maciej R., Mrukwa-Kominek, Ewa
Publicado 2023

A novel mitochondrial DNA deletion in a patient with Kearns-Sayre syndrome: a late-onset of the fatal cardiac conduction deficit and cardiomyopathy accompanying long-term rGH treat...

por Obara-Moszynska, Monika, Maceluch, Jaroslaw, Bobkowski, Waldemar, Baszko, Artur, Jaremba, Oskar, Krawczynski, Maciej R, Niedziela, Marek
Publicado 2013

X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1–4 Genes

por Rojek, Aleksandra, Krawczynski, Maciej R., Jamsheer, Aleksander, Sowinska-Seidler, Anna, Iwaniszewska, Barbara, Malunowicz, Ewa, Niedziela, Marek
Publicado 2016

Five novel CNGB3 gene mutations in Polish patients with achromatopsia

por Wawrocka, Anna, Kohl, Susanne, Baumann, Britta, Walczak-Sztulpa, Joanna, Wicher, Katarzyna, Skorczyk-Werner, Anna, Krawczynski, Maciej R.
Publicado 2014

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

por Skorczyk-Werner, Anna, Pawłowski, Przemysław, Michalczuk, Marta, Warowicka, Alicja, Wawrocka, Anna, Wicher, Katarzyna, Bakunowicz-Łazarczyk, Alina, Krawczyński, Maciej R.
Publicado 2015

Mitochondrial genome variation in male LHON patients with the m.11778G > A mutation

por Piotrowska-Nowak, Agnieszka, Krawczyński, Maciej R., Kosior-Jarecka, Ewa, Ambroziak, Anna M., Korwin, Magdalena, Ołdak, Monika, Tońska, Katarzyna, Bartnik, Ewa
Publicado 2020

Large deletion causing von Hippel-Lindau disease and hereditary breast cancer syndrome

por Krzystolik, Karol, Jakubowska, Anna, Gronwald, Jacek, Krawczyński, Maciej R, Drobek-Słowik, Monika, Sagan, Leszek, Cyryłowski, Leszek, Lubiński, Wojciech, Lubiński, Jan, Cybulski, Cezary
Publicado 2014

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

por Kolesinska, Zofia, Acierno Jr, James, Ahmed, S Faisal, Xu, Cheng, Kapczuk, Karina, Skorczyk-Werner, Anna, Mikos, Hanna, Rojek, Aleksandra, Massouras, Andreas, Krawczynski, Maciej R, Pitteloud, Nelly, Niedziela, Marek
Publicado 2018

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

por Wawrocka, Anna, Skorczyk-Werner, Anna, Wicher, Katarzyna, Niedziela, Zuzanna, Ploski, Rafal, Rydzanicz, Malgorzata, Sykulski, Maciej, Kociecki, Jaroslaw, Weisschuh, Nicole, Kohl, Susanne, Biskup, Saskia, Wissinger, Bernd, Krawczynski, Maciej R.
Publicado 2018

Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland

por Wozniak, Anna, Wolnik-Brzozowska, Danuta, Wisniewska, Marzena, Glazar, Renata, Materna-Kiryluk, Anna, Moszura, Tomasz, Badura-Stronka, Magdalena, Skolozdrzy, Joanna, Krawczynski, Maciej R, Zeyland, Joanna, Bobkowski, Waldemar, Slomski, Ryszard, Latos-Bielenska, Anna, Siwinska, Aldona
Publicado 2010

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

por Walczak-Sztulpa, Joanna, Wawrocka, Anna, Doornbos, Cenna, van Beek, Ronald, Sowińska-Seidler, Anna, Jamsheer, Aleksander, Bukowska-Olech, Ewelina, Latos-Bieleńska, Anna, Grenda, Ryszard, Bongers, Ernie M. H. F., Schmidts, Miriam, Obersztyn, Ewa, Krawczyński, Maciej R., Oud, Machteld M.
Publicado 2022