Novel gene variants in Polish patients with Leber congenital amaurosis (LCA) von Skorczyk-Werner, Anna, Niedziela, Zuzanna, Stopa, Marcin, Krawczyński, Maciej Robert

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Phenotypic Variation of Autosomal Recessive Leber Hereditary Optic Neuropathy (arLHON) in One Family von Pojda-Wilczek, Dorota, Wójcik, Justyna, Kmak, Bożena, Krawczyński, Maciej Robert

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The coincidence of two ultra-rare hereditary eye diseases: gyrate atrophy and Kjer optic atrophy - a surprising diagnosis based on next-generation sequencing von Skorczyk-Werner, Anna, Raczynska, Dorota, Wawrocka, Anna, Zholdybayeva, Dinara, Yakhiyayeva, Nurgul, Krawczynski, Maciej Robert

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Molecular background of Leber congenital amaurosis in a Polish cohort of patients—novel variants discovered by NGS von Skorczyk-Werner, Anna, Sowińska-Seidler, Anna, Wawrocka, Anna, Walczak-Sztulpa, Joanna, Krawczyński, Maciej Robert

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Novel CHM mutations in Polish patients with choroideremia - an orphan disease with close perspective of treatment von Skorczyk-Werner, Anna, Wawrocka, Anna, Kochalska, Natalia, Krawczynski, Maciej Robert

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Standard therapy or additionally radioactive iodine (131I) therapy; which will stop the recurrence of glioblastoma multiforme (GBM)? von Czarnywojtek, Agata, Gut, Paweł, Dyrka, Kamil, Sowiński, Jerzy, Sawicka-Gutaj, Nadia, Katulska, Katarzyna, Stajgis, Piotr, Wykrętowicz, Mateusz, Moskal, Jakub, Kościński, Jeremi, Pietrończyk, Krzysztof, Graczyk, Patryk, Krawczyński, Maciej Robert, Florek, Ewa, Szczepanek-Parulska, Ewelina, Ruchała, Marek, Ferlito, Alfio

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Severe manifestation of Leber's hereditary optic neuropathy due to 11778G>A mtDNA mutation in a female with hypoestrogenism due to Perrault syndrome von Badura-Stronka, Magdalena, Wawrocka, Anna, Zawieja, Krzysztof, Silska, Sylwia, Krawczyński, Maciej Robert

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Two sisters with microphthalmia and anterior segment dysgenesis secondary to a PAX6 pathogenic variant with clinically healthy parents: a case of gonadal mosaicism? von Wawrocka, Anna, Walczak-Sztulpa, Joanna, Bukowska-Olech, Ewelina, Jamsheer, Aleksander, Jaworski, Marcin, Jaworski, Piotr, Krawczynski, Maciej Robert

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Phenotypic Variation of Autosomal Recessive Leber Hereditary Optic Neuropathy (arLHON) in One Family von Pojda-Wilczek, Dorota, Wójcik, Justyna, Kmak, Bożena, Krawczyński, Maciej Robert

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Alström syndrome: A case report of the Polish family and a brief review of the differential diagnosis von Wicher, Katarzyna, Bajon, Tomasz, Wawrocka, Anna, Skorczyk-Werner, Anna, Niedziela, Marek, Krawczynski, Maciej Robert

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Additional file 2 of Novel gene variants in Polish patients with Leber congenital amaurosis (LCA) von Skorczyk-Werner, Anna, Niedziela, Zuzanna, Stopa, Marcin, Krawczyński, Maciej Robert

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Splicing Mutations of 54-bp Exons in the COL11A1 Gene Cause Marshall Syndrome, but Other Mutations Cause Overlapping Marshall/Stickler Phenotypes von Annunen, Susanna, Körkkö, Jarmo, Czarny, Malwina, Warman, Matthew L., Brunner, Han G., Kääriäinen, Helena, Mulliken, John B., Tranebjærg, Lisbeth, Brooks, David G., Cox, Gerald F., Cruysberg, Johan R., Curtis, Mary A., Davenport, Sandra L.H., Friedrich, Christopher A., Kaitila, Ilkka, Krawczynski, Maciej Robert, Latos-Bielenska, Anna, Mukai, Shitzuo, Olsen, Björn R., Shinno, Nancy, Somer, Mirja, Vikkula, Miikka, Zlotogora, Joel, Prockop, Darwin J., Ala-Kokko, Leena

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The coincidence of two ultra-rare hereditary eye diseases: gyrate atrophy and Kjer optic atrophy - a surprising diagnosis based on next-generation sequencing von Skorczyk-Werner, Anna, Raczynska, Dorota, Wawrocka, Anna, Zholdybayeva, Dinara, Yakhiyayeva, Nurgul, Krawczynski, Maciej Robert

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Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland von Matczyńska, Ewa, Beć-Gajowniczek, Marta, Sivitskaya, Larysa, Gregorczyk, Elżbieta, Łyszkiewicz, Przemysław, Szymańczak, Robert, Jędrzejowska, Maria, Wylęgała, Edward, Krawczyński, Maciej R, Teper, Sławomir, Boguszewska-Chachulska, Anna

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Genetic testing for inherited cardiovascular diseases. A position statement of the Polish Cardiac Society endorsed by Polish Society of Human Genetics and Cardiovascular Patient Co... von Biernacka, Elżbieta K, Osadnik, Tadeusz, Bilińska, Zofia T, Krawczyński, Maciej, Latos-Bieleńska, Anna, Łaczmańska, Izabela, Miszczak-Knecht, Maria, Płoski, Rafał, Ponińska, Joanna K, Prejbisz, Aleksander, Rubiś, Paweł, Rudnicka, Aleksandra, Szczałuba, Krzysztof, Szczygieł, Justyna A, Własienko, Paweł, Wołczenko, Agnieszka, Zienciuk-Krajka, Agnieszka, Ziółkowska, Lidia, Gil, Robert

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ERRATUM: Genetic testing for inherited cardiovascular diseases. A position statement of the Polish Cardiac Society endorsed by Polish Society of Human Genetics and Cardiovascular P... von Biernacka, Elżbieta K, Osadnik, Tadeusz, Bilińska, Zofia T, Krawczyński, Maciej, Latos-Bieleńska, Anna, Łaczmańska, Izabela, Miszczak-Knecht, Maria, Płoski, Rafał, Ponińska, Joanna K, Prejbisz, Aleksander, Rubiś, Paweł, Rudnicka, Aleksandra, Szczałuba, Krzysztof, Szczygieł, Justyna A, Własienko, Paweł, Wołczenko, Agnieszka, Zienciuk-Krajka, Agnieszka, Ziółkowska, Lidia, Gil, Robert

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Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders von Liu, James, He, Yi, Lwin, Cara, Han, Marina, Guan, Bin, Naik, Amelia, Bender, Chelsea, Moore, Nia, Huryn, Laryssa A, Sergeev, Yuri V, Qian, Haohua, Zeng, Yong, Dong, Lijin, Liu, Pinghu, Lei, Jingqi, Haugen, Carl J, Prasov, Lev, Shi, Ruifang, Dollfus, Hélène, Aristodemou, Petros, Laich, Yannik, Németh, Andrea H, Taylor, John, Downes, Susan, Krawczynski, Maciej R, Meunier, Isabelle, Strassberg, Melissa, Tenney, Jessica, Gao, Josephine, Shear, Matthew A, Moore, Anthony T, Duncan, Jacque L, Menendez, Beatriz, Hull, Sarah, Vincent, Andrea L, Siskind, Carly E, Traboulsi, Elias I, Blackstone, Craig, Sisk, Robert A, Miraldi Utz, Virginia, Webster, Andrew R, Michaelides, Michel, Arno, Gavin, Synofzik, Matthis, Hufnagel, Robert B

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