Expanding Cyst of the Septum Pellucidum – Endoscopic Observations on the Mechanism of Development and Results of Treatment

Yazar: SAGAN, Leszek, LIMANÓWKA, Bartosz, HERBOWSKI, Leszek, PONCYLJUSZ, Wojciech, GIŻEWSKA, Maria
Yayımlandı Neurol Med Chir (Tokyo) (2020)

Therapeutic effect of a cleft lip teat on infants with respiratory and feeding disorders: Two case reports

Yazar: Pawlukowska, Wioletta, Rychert, Monika, Urbanowicz, Ewa, Romanowska, Hanna, Rotter, Iwona, Giżewska, Maria
Yayımlandı Medicine (Baltimore) (2018)

Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results

Yazar: Giżewska, Maria, MacDonald, Anita, Bélanger-Quintana, Amaya, Burlina, Alberto, Cleary, Maureen, Coşkun, Turgay, Feillet, François, Muntau, Ania C., Trefz, Friedrich K., van Spronsen, Francjan J., Blau, Nenad
Yayımlandı Eur J Pediatr (2015)

Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures

Yazar: Bayat, Allan, Pendziwiat, Manuela, Obersztyn, Ewa, Goldenberg, Paula, Zacher, Pia, Döring, Jan Henje, Syrbe, Steffen, Begtrup, Amber, Borovikov, Artem, Sharkov, Artem, Karasińska, Aneta, Giżewska, Maria, Mitchell, Wendy, Morava, Eva, Møller, Rikke S., Rubboli, Guido
Yayımlandı Front Genet (2021)

Phenylketonuria patients’ and their parents’ acceptance of the disease: multi-centre study

Yazar: Witalis, Ewa, Mikoluc, Bożena, Motkowski, Radoslaw, Szyszko, Justyna, Chrobot, Agnieszka, Didycz, Bozena, Lange, Agata, Mozrzymas, Renata, Milanowski, Andrzej, Nowacka, Maria, Piotrowska-Depta, Mariola, Romanowska, Hanna, Starostecka, Ewa, Wierzba, Jolanta, Skorniewska, Magdalena, Wojcicka-Bartlomiejczyk, Barbara Iwona, Gizewska, Maria
Yayımlandı Qual Life Res (2016)

Phenylketonuria patients’ and their parents’ knowledge and attitudes to the daily diet - multi-centre study

Yazar: Witalis, Ewa, Mikoluc, Bozena, Motkowski, Radoslaw, Sawicka-Powierza, Jolanta, Chrobot, Agnieszka, Didycz, Bozena, Lange, Agata, Mozrzymas, Renata, Milanowski, Andrzej, Nowacka, Maria, Piotrowska-Depta, Mariola, Romanowska, Hanna, Starostecka, Ewa, Wierzba, Jolanta, Skorniewska, Magdalena, Wojcicka-Bartlomiejczyk, Barbara Iwona, Gizewska, Maria, Car, Halina
Yayımlandı Nutr Metab (Lond) (2017)

Bone mineral density is within normal range in most adult phenylketonuria patients

Yazar: Lubout, Charlotte M. A., Blanco, Francisco Arrieta, Bartosiewicz, Katarzyna, Feillet, François, Gizewska, Maria, Hollak, Carla, van der Lee, Johanna H., Maillot, François, Stepien, Karolina M., Wagenmakers, Margreet A. E. M., Welsink‐Karssies, Mendy M., van Spronsen, Francjan J., Bosch, Annet M.
Yayımlandı J Inherit Metab Dis (2020)

Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration

Yazar: Giżewska, Maria, Durda, Katarzyna, Winter, Theresa, Ostrowska, Iwona, Ołtarzewski, Mariusz, Klein, Jeannette, Blankenstein, Oliver, Romanowska, Hanna, Krzywińska-Zdeb, Elżbieta, Patalan, Michał Filip, Bartkowiak, Elżbieta, Szczerba, Natalia, Seiberling, Stefan, Birkenfeld, Bożena, Nauck, Matthias, von Bernuth, Horst, Meisel, Christian, Bernatowska, Ewa Anna, Walczak, Mieczysław, Pac, Małgorzata
Yayımlandı Front Immunol (2020)

Molecular Investigations to Improve Diagnostic Accuracy in Patients With ARC Syndrome

Yazar: Cullinane, Andrew R., Straatman-Iwanowska, Anna, Seo, Jeong K., Ko, Jae S., Song, Kyung S., Gizewska, Maria, Gruszfeld, Dariusz, Gliwicz, Dorota, Tuysuz, Beyhan, Erdemir, Gulin, Sougrat, Rachid, Wakabayashi, Yoshiyuki, Hinds, Rupert, Barnicoat, Angela, Mandel, Hanna, Chitayat, David, Fischler, Björn, Garcia-Cazorla, Angels, Knisely, A. S., Kelly, Deirdre A., Maher, Eamonn R., Gissen, Paul
Baskı/Yayın Bilgisi 2009

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

Yazar: Docherty, Louise E., Rezwan, Faisal I., Poole, Rebecca L., Turner, Claire L. S., Kivuva, Emma, Maher, Eamonn R., Smithson, Sarah F., Hamilton-Shield, Julian P., Patalan, Michal, Gizewska, Maria, Peregud-Pogorzelski, Jaroslaw, Beygo, Jasmin, Buiting, Karin, Horsthemke, Bernhard, Soellner, Lukas, Begemann, Matthias, Eggermann, Thomas, Baple, Emma, Mansour, Sahar, Temple, I. Karen, Mackay, Deborah J. G.
Yayımlandı Nat Commun (2015)

Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

Yazar: Begemann, Matthias, Rezwan, Faisal I, Beygo, Jasmin, Docherty, Louise E, Kolarova, Julia, Schroeder, Christopher, Buiting, Karin, Chokkalingam, Kamal, Degenhardt, Franziska, Wakeling, Emma L, Kleinle, Stephanie, González Fassrainer, Daniela, Oehl-Jaschkowitz, Barbara, Turner, Claire L S, Patalan, Michal, Gizewska, Maria, Binder, Gerhard, Bich Ngoc, Can Thi, Chi Dung, Vu, Mehta, Sarju G, Baynam, Gareth, Hamilton-Shield, Julian P, Aljareh, Sara, Lokulo-Sodipe, Oluwakemi, Horton, Rachel, Siebert, Reiner, Elbracht, Miriam, Temple, Isabel Karen, Eggermann, Thomas, Mackay, Deborah J G
Yayımlandı J Med Genet (2018)

Can untreated PKU patients escape from intellectual disability? A systematic review

Yazar: van Vliet, Danique, van Wegberg, Annemiek M. J., Ahring, Kirsten, Bik-Multanowski, Miroslaw, Blau, Nenad, Bulut, Fatma D., Casas, Kari, Didycz, Bozena, Djordjevic, Maja, Federico, Antonio, Feillet, François, Gizewska, Maria, Gramer, Gwendolyn, Hertecant, Jozef L., Hollak, Carla E. M., Jørgensen, Jens V., Karall, Daniela, Landau, Yuval, Leuzzi, Vincenzo, Mathisen, Per, Moseley, Kathryn, Mungan, Neslihan Ö., Nardecchia, Francesca, Õunap, Katrin, Powell, Kimberly K., Ramachandran, Radha, Rutsch, Frank, Setoodeh, Aria, Stojiljkovic, Maja, Trefz, Fritz K., Usurelu, Natalia, Wilson, Callum, van Karnebeek, Clara D., Hanley, William B., van Spronsen, Francjan J.
Yayımlandı Orphanet J Rare Dis (2018)

The Genetic Landscape and Epidemiology of Phenylketonuria

Yazar: Hillert, Alicia, Anikster, Yair, Belanger-Quintana, Amaya, Burlina, Alberto, Burton, Barbara K., Carducci, Carla, Chiesa, Ana E., Christodoulou, John, Đorđević, Maja, Desviat, Lourdes R., Eliyahu, Aviva, Evers, Roeland A.F., Fajkusova, Lena, Feillet, François, Bonfim-Freitas, Pedro E., Giżewska, Maria, Gundorova, Polina, Karall, Daniela, Kneller, Katya, Kutsev, Sergey I., Leuzzi, Vincenzo, Levy, Harvey L., Lichter-Konecki, Uta, Muntau, Ania C., Namour, Fares, Oltarzewski, Mariusz, Paras, Andrea, Perez, Belen, Polak, Emil, Polyakov, Alexander V., Porta, Francesco, Rohrbach, Marianne, Scholl-Bürgi, Sabine, Spécola, Norma, Stojiljković, Maja, Shen, Nan, Santana-da Silva, Luiz C., Skouma, Anastasia, van Spronsen, Francjan, Stoppioni, Vera, Thöny, Beat, Trefz, Friedrich K., Vockley, Jerry, Yu, Youngguo, Zschocke, Johannes, Hoffmann, Georg F., Garbade, Sven F., Blau, Nenad
Yayımlandı Am J Hum Genet (2020)