First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century by Badura‐Stronka, Magdalena, Hirschfeld, Adam Sebastian, Winczewska‐Wiktor, Anna, Budzyńska, Edyta, Jakubiuk‐Tomaszuk, Anna, Piontek, Anita, Steinborn, Barbara, Kozubski, Wojciech

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FINCA syndrome—Defining neurobehavioral phenotype in survivors into late childhood by Badura‐Stronka, Magdalena, Śmigiel, Robert, Rutkowska, Karolina, Szymańska, Krystyna, Hirschfeld, Adam Sebastian, Monkiewicz, Michał, Kosińska, Joanna, Wolańska, Ewelina, Rydzanicz, Małgorzata, Latos‐Bieleńska, Anna, Płoski, Rafał

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Parental age as a risk factor for isolated congenital malformations in a Polish population by Materna-Kiryluk, Anna, Wiśniewska, Katarzyna, Badura-Stronka, Magdalena, Mejnartowicz, Jan, Wiȩckowska, Barbara, Balcar-Boroń, Anna, Czerwionka-Szaflarska, Mieczyslawa, Gajewska, Elzbieta, Godula-Stuglik, Urszula, Krawczyński, Marian, Limon, Janusz, Rusin, Jozef, Sawulicka-Oleszczuk, Henryka, Szwalkiewicz-Warowicka, Ewa, Walczak, Mieczyslaw, Latos-Bieleńska, Anna

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The clinical phenotype with gastrostomy and abdominal wall infection in a pediatric patient with Takenouchi-Kosaki syndrome due to a heterozygous c.191A > G (p.Tyr64Cys) variant in... by Szczawińska-Popłonyk, Aleksandra, Popłonyk, Natalia, Badura-Stronka, Magdalena, Juengling, Jerome, Huhn, Kerstin, Biskup, Saskia, Bancerz, Bartłomiej, Walkowiak, Jarosław

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Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses by Bukowska-Olech, Ewelina, Materna-Kiryluk, Anna, Walczak-Sztulpa, Joanna, Popiel, Delfina, Badura-Stronka, Magdalena, Koczyk, Grzegorz, Dawidziuk, Adam, Jamsheer, Aleksander

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Validation of targeted next-generation sequencing panels in a cohort of Polish patients with epilepsy: assessing variable performance across clinical endophenotypes and uncovering... by Badura-Stronka, Magdalena, Wołyńska, Katarzyna, Winczewska-Wiktor, Anna, Marcinkowska, Justyna, Karolewska, Dagmara, Tomkowiak-Kędzia, Danuta, Piechota, Michał, Przyborska, Marta, Kochalska, Natalia, Steinborn, Barbara

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Analysis of Factors That May Affect the Effectiveness of Ketogenic Diet Treatment in Pediatric and Adolescent Patients by Winczewska-Wiktor, Anna, Hirschfeld, Adam Sebastian, Badura-Stronka, Magdalena, Komasińska-Piotrowska, Paulina, Steinborn, Barbara

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CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis-Literature Review and Case Report by Badura-Stronka, Magdalena, Winczewska-Wiktor, Anna, Pietrzak, Anna, Hirschfeld, Adam Sebastian, Zemojtel, Tomasz, Wołyńska, Katarzyna, Bednarek-Rajewska, Katarzyna, Seget-Dubaniewicz, Monika, Matheisel, Agnieszka, Latos-Bielenska, Anna, Steinborn, Barbara

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Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome by Jakubiak, Aleksandra, Szczałuba, Krzysztof, Badura-Stronka, Magdalena, Kutkowska-Kaźmierczak, Anna, Jakubiuk-Tomaszuk, Anna, Chilarska, Tatiana, Pilch, Jacek, Braun-Walicka, Natalia, Castaneda, Jennifer, Wołyńska, Katarzyna, Wiśniewska, Marzena, Kugaudo, Monika, Bielecka, Monika, Pesz, Karolina, Wierzba, Jolanta, Latos-Bieleńska, Anna, Obersztyn, Ewa, Krajewska-Walasek, Małgorzata, Śmigiel, Robert

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Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families by Sowińska-Seidler, Anna, Badura-Stronka, Magdalena, Latos-Bieleńska, Anna, Stronka, Michał, Jamsheer, Aleksander

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Co‐occurrence of Jalili syndrome and muscular overgrowth by Wawrocka, Anna, Walczak‐Sztulpa, Joanna, Badura‐Stronka, Magdalena, Owecki, Michal, Kopczynski, Przemysław, Mrukwa‐Kominek, Ewa, Skorczyk‐Werner, Anna, Gasperowicz, Piotr, Ploski, Rafal, Krawczynski, Maciej R.

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Novel mutation in the BMPR1B gene (R486L) in a polish family and further delineation of the phenotypic features of BMPR1B-Related brachydactyly by Badura-Stronka, Magdalena, Mróz, Dariusz, Beighton, Peter, Łukawiecki, Sebastian, Wicher, Katarzyna, Latos-Bieleńska, Anna, Kozłowski, Kazimierz

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

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Comparative study of clinical characteristics of amniotic rupture sequence with and without body wall defect: Further evidence for separation by Jamsheer, Aleksander, Materna-Kiryluk, Anna, Badura-Stronka, Magdalena, Wiśniewska, Katarzyna, Więckowska, Barbara, Mejnartowicz, Jan, Balcar-Boroń, Anna, Borszewska-Kornacka, Maria, Czerwionka-Szaflarska, Mieczysława, Gajewska, Elżbieta, Godula-Stuglik, Urszula, Krawczynski, Marian, Limon, Janusz, Rusin, Józef, Sawulicka-Oleszczuk, Henryka, Szwałkiewicz-Warowicka, Ewa, Świetliński, Janusz, Walczak, Mieczysław, Latos-Bieleńska, Anna

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Variety of symptoms of GLUT1 deficiency syndrome in three-generation family by Winczewska-Wiktor, Anna, Hoffman-Zacharska, Dorota, Starczewska, Monika, Kaczmarek, Izabela, Badura-Stronka, Magdalena, Steinborn, Barbara

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Evaluating the efficacy of a ketogenic diet in managing drug resistant paediatric DEDPC5-related epilepsy by Winczewska-Wiktor, Anna, Braszka, Małgorzata, Harada-Laszlo, Mia, Badura-Stronka, Magdalena, Kaczmarek, Izabela, Starczewska, Monika, Wencel-Warot, Agnieszka, Steinborn, Barbara, Jamsheer, Aleksander

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Broadening the phenotypic spectrum of the presumably epilepsy-related SV2A gene variants by Badura-Stronka, Magdalena, Kuszel, Łukasz, Wencel-Warot, Agnieszka, Cudnoch, Kamila, Wołyńska, Katarzyna, Rutkowska, Karolina, Steinborn, Barbara, Płoski, Rafał

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Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome by Lee, Sunwoo, Ochoa, Eguzkine, Badura-Stronka, Magdalena, Donnelly, Deirdre, Lederer, Damien, Lynch, Sally A, Gardham, Alice, Morton, Jenny, Stewart, Helen, Docquier, France, Rodger, Fay, Martin, Ezequiel, Toribio, Ana, Maher, Eamonn R, Balasubramanian, Meena

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Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care by Ivanovski, Ivan, Djuric, Olivera, Caraffi, Stefano Giuseppe, Santodirocco, Daniela, Pollazzon, Marzia, Rosato, Simonetta, Cordelli, Duccio Maria, Abdalla, Ebtesam, Accorsi, Patrizia, Adam, Margaret P, Ajmone, Paola Francesca, Badura-Stronka, Magdalena, Baldo, Chiara, Baldi, Maddalena, Bayat, Allan, Bigoni, Stefania, Bonvicini, Federico, Breckpot, Jeroen, Callewaert, Bert, Cocchi, Guido, Cuturilo, Goran, De Brasi, Daniele, Devriendt, Koenraad, Dinulos, Mary Beth, Hjortshøj, Tina Duelund, Epifanio, Roberta, Faravelli, Francesca, Fiumara, Agata, Formisano, Debora, Giordano, Lucio, Grasso, Marina, Grønborg, Sabine, Iodice, Alessandro, Iughetti, Lorenzo, Kuburovic, Vladimir, Kutkowska-Kazmierczak, Anna, Lacombe, Didier, Lo Rizzo, Caterina, Luchetti, Anna, Malbora, Baris, Mammi, Isabella, Mari, Francesca, Montorsi, Giulia, Moutton, Sebastien, Møller, Rikke S, Muschke, Petra, Nielsen, Jens Erik Klint, Obersztyn, Ewa, Pantaleoni, Chiara, Pellicciari, Alessandro, Pisanti, Maria Antonietta, Prpic, Igor, Poch-Olive, Maria Luisa, Raviglione, Federico, Renieri, Alessandra, Ricci, Emilia, Rivieri, Francesca, Santen, Gijs W, Savasta, Salvatore, Scarano, Gioacchino, Schanze, Ina, Selicorni, Angelo, Silengo, Margherita, Smigiel, Robert, Spaccini, Luigina, Sorge, Giovanni, Szczaluba, Krzysztof, Tarani, Luigi, Tone, Luis Gonzaga, Toutain, Annick, Trimouille, Aurelien, Valera, Elvis Terci, Vergano, Samantha Schrier, Zanotta, Nicoletta, Zenker, Martin, Conidi, Andrea, Zollino, Marcella, Rauch, Anita, Zweier, Christiane, Garavelli, Livia

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Clinical and immunological assessment of APDS2 with features of the SHORT syndrome related to a novel mutation in PIK3R1 with reduced penetrance by Szczawińska-Popłonyk, Aleksandra, Bernat-Sitarz, Katarzyna, Schwartzmann, Eyal, Piechota, Michał, Badura-Stronka, Magdalena

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