Genetic syndromes with vascular malformations – update on molecular background and diagnostics

por Ustaszewski, Adam, Janowska-Głowacka, Joanna, Wołyńska, Katarzyna, Pietrzak, Anna, Badura-Stronka, Magdalena
Publicado 2020

Analysis of Factors That May Affect the Effectiveness of Ketogenic Diet Treatment in Pediatric and Adolescent Patients

por Winczewska-Wiktor, Anna, Hirschfeld, Adam Sebastian, Badura-Stronka, Magdalena, Komasińska-Piotrowska, Paulina, Steinborn, Barbara
Publicado 2022

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...

por Szczawińska-Popłonyk, Aleksandra, Popłonyk, Natalia, Badura-Stronka, Magdalena, Juengling, Jerome, Huhn, Kerstin, Biskup, Saskia, Bancerz, Bartłomiej, Walkowiak, Jarosław
Publicado 2023

A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report

por Winczewska-Wiktor, Anna, Badura-Stronka, Magdalena, Monies-Nowicka, Anna, Nowicki, Michal Maciej, Steinborn, Barbara, Latos-Bieleńska, Anna, Monies, Dorota
Publicado 2016

Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses

por Bukowska-Olech, Ewelina, Materna-Kiryluk, Anna, Walczak-Sztulpa, Joanna, Popiel, Delfina, Badura-Stronka, Magdalena, Koczyk, Grzegorz, Dawidziuk, Adam, Jamsheer, Aleksander
Publicado 2020

Central Apneas Due to the CLIFAHDD Syndrome Successfully Treated with Pyridostigmine

por Winczewska-Wiktor, Anna, Hirschfeld, Adam Sebastian, Badura-Stronka, Magdalena, Wojsyk-Banaszak, Irena, Sobkowiak, Paulina, Bartkowska-Śniatkowska, Alicja, Babak, Valeriia, Steinborn, Barbara
Publicado 2022

FINCA syndrome—Defining neurobehavioral phenotype in survivors into late childhood

por 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
Publicado 2022

CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis—Literature Review and Case Report

por 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
Publicado 2021

Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome

por 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
Publicado 2023

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

Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome

por 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
Publicado 2021

Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly

por Dawidziuk, Mateusz, Gambin, Tomasz, Bukowska-Olech, Ewelina, Antczak-Marach, Dorota, Badura-Stronka, Magdalena, Buda, Piotr, Budzynska, Edyta, Castaneda, Jennifer, Chilarska, Tatiana, Czyzyk, Elzbieta, Eckersdorf-Mastalerz, Anna, Fijak-Moskal, Jolanta, Gieruszczak-Bialek, Dorota, Glodek-Brzozowska, Ewelina, Goszczanska-Ciuchta, Alicja, Grzeszykowska-Podymniak, Malgorzata, Gurda, Barbara, Jakubiuk-Tomaszuk, Anna, Jamroz, Ewa, Janeczko, Magdalena, Jedlińska-Pijanowska, Dominika, Jurek, Marta, Karolewska, Dagmara, Kazmierczak, Adela, Kleist, Teresa, Kochanowska, Iwona, Krajewska-Walasek, Malgorzata, Kufel, Katarzyna, Kutkowska-Kaźmierczak, Anna, Lipiec, Agata, Maksym-Gasiorek, Dorota, Materna-Kiryluk, Anna, Mazurkiewicz, Hanna, Milewski, Michał, Pavina-Guglas, Tatsiana, Pietrzyk, Aleksandra, Posmyk, Renata, Pyrkosz, Antoni, Rudzka-Dybala, Mariola, Slezak, Ryszard, Wisniewska, Marzena, Zalewska-Miszkurka, Zofia, Szczepanik, Elzbieta, Obersztyn, Ewa, Bekiesinska-Figatowska, Monika, Gawlinski, Pawel, Wiszniewski, Wojciech
Publicado 2021

Mowat-Wilson syndrome: growth charts

por Ivanovski, Ivan, Djuric, Olivera, Broccoli, Serena, Caraffi, Stefano Giuseppe, Accorsi, Patrizia, Adam, Margaret P., Avela, Kristina, Badura-Stronka, Magdalena, Bayat, Allan, Clayton-Smith, Jill, Cocco, Isabella, Cordelli, Duccio Maria, Cuturilo, Goran, Di Pisa, Veronica, Dupont Garcia, Juliette, Gastaldi, Roberto, Giordano, Lucio, Guala, Andrea, Hoei-Hansen, Christina, Inaba, Mie, Iodice, Alessandro, Nielsen, Jens Erik Klint, Kuburovic, Vladimir, Lazalde-Medina, Brissia, Malbora, Baris, Mizuno, Seiji, Moldovan, Oana, Møller, Rikke S., Muschke, Petra, Otelli, Valeria, Pantaleoni, Chiara, Piscopo, Carmelo, Poch-Olive, Maria Luisa, Prpic, Igor, Marín Reina, Purificación, Raviglione, Federico, Ricci, Emilia, Scarano, Emanuela, Simonte, Graziella, Smigiel, Robert, Tanteles, George, Tarani, Luigi, Trimouille, Aurelien, Valera, Elvis Terci, Schrier Vergano, Samantha, Writzl, Karin, Callewaert, Bert, Savasta, Salvatore, Street, Maria Elisabeth, Iughetti, Lorenzo, Bernasconi, Sergio, Giorgi Rossi, Paolo, Garavelli, Livia
Publicado 2020