Recombinant growth hormone therapy in a girl with costello syndrome: a 4-year observation

מאת Blachowska, Ewa, Petriczko, Elżbieta, Horodnicka-Józwa, Anita, Skórka, Agata, Pelc, Magdalena, Krajewska-Walasek, Małgorzata, Walczak, Mieczysław
הוצא לאור ב Ital J Pediatr (2016)

Audio Profiles in Mitochondrial Deafness m.1555A>G and m.3243A>G Show Distinct Differences

מאת Iwanicka-Pronicka, Katarzyna, Pollak, Agnieszka, Skórka, Agata, Lechowicz, Urszula, Korniszewski, Lech, Westfal, Przemysław, Skarżyński, Henryk, Płoski, Rafał
הוצא לאור ב Med Sci Monit (2015)

Ectopic virilising adrenocortical tumour in the spinal region in an 8 year-old boy: a case report and review of the literature

מאת Skórka, Agata, Moszczyńska, Elżbieta, Kot, Karolina, Roszkowski, Marcin, Jurkiewicz, Elżbieta, Grajkowska, Wiesława, Pronicki, Maciej, Pilecki, Olgierd, Szalecki, Mieczysław
הוצא לאור ב Ital J Pediatr (2015)

Postlingual Hearing Loss as a Mitochondrial 3243A>G Mutation Phenotype

מאת Iwanicka-Pronicka, Katarzyna, Pollak, Agnieszka, Skórka, Agata, Lechowicz, Urszula, Pajdowska, Magdalena, Furmanek, Mariusz, Rzeski, Maciej, Korniszewski, Lech, Skarżyński, Henryk, Płoski, Rafał
יצא לאור 2012

MTHFR 677T Is a Strong Determinant of the Degree of Hearing Loss Among Polish Males with Postlingual Sensorineural Hearing Impairment

מאת Pollak, Agnieszka, Mueller-Malesinska, Malgorzata, Lechowicz, Urszula, Skorka, Agata, Korniszewski, Lech, Sobczyk-Kopciol, Agnieszka, Waskiewicz, Anna, Broda, Grazyna, Iwanicka-Pronicka, Katarzyna, Oldak, Monika, Skarzynski, Henryk, Płoski, Rafał
יצא לאור 2012

Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement

מאת Brioude, Frédéric, Kalish, Jennifer M., Mussa, Alessandro, Foster, Alison C., Bliek, Jet, Ferrero, Giovanni Battista, Boonen, Susanne E., Cole, Trevor, Baker, Robert, Bertoletti, Monica, Cocchi, Guido, Coze, Carole, De Pellegrin, Maurizio, Hussain, Khalid, Ibrahim, Abdulla, Kilby, Mark D., Krajewska-Walasek, Malgorzata, Kratz, Christian P., Ladusans, Edmund J., Lapunzina, Pablo, Le Bouc, Yves, Maas, Saskia M., Macdonald, Fiona, Õunap, Katrin, Peruzzi, Licia, Rossignol, Sylvie, Russo, Silvia, Shipster, Caroleen, Skórka, Agata, Tatton-Brown, Katrina, Tenorio, Jair, Tortora, Chiara, Grønskov, Karen, Netchine, Irène, Hennekam, Raoul C., Prawitt, Dirk, Tümer, Zeynep, Eggermann, Thomas, Mackay, Deborah J. G., Riccio, Andrea, Maher, Eamonn R
הוצא לאור ב Nat Rev Endocrinol (2018)

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene

מאת Hilgert, Nele, Huentelman, Matthew J, Thorburn, Ashley Q, Fransen, Erik, Dieltjens, Nele, Mueller-Malesinska, Malgorzata, Pollak, Agnieszka, Skorka, Agata, Waligora, Jaroslaw, Ploski, Rafal, Castorina, Pierangela, Primignani, Paola, Ambrosetti, Umberto, Murgia, Alessandra, Orzan, Eva, Pandya, Arti, Arnos, Kathleen, Norris, Virginia, Seeman, Pavel, Janousek, Petr, Feldmann, Delphine, Marlin, Sandrine, Denoyelle, Françoise, Nishimura, Carla J, Janecke, Andreas, Nekahm-Heis, Doris, Martini, Alessandro, Mennucci, Elena, Tóth, Timea, Sziklai, Istvan, del Castillo, Ignacio, Moreno, Felipe, Petersen, Michael B, Iliadou, Vasiliki, Tekin, Mustafa, Incesulu, Armagan, Nowakowska, Ewa, Bal, Jerzy, Van de Heyning, Paul, Roux, Anne-Françoise, Blanchet, Catherine, Goizet, Cyril, Lancelot, Guenaëlle, Fialho, Graça, Caria, Helena, Liu, Xue Zhong, Xiaomei, Ouyang, Govaerts, Paul, Grønskov, Karen, Hostmark, Karianne, Frei, Klemens, Dhooge, Ingeborg, Vlaeminck, Stephen, Kunstmann, Erdmute, Van Laer, Lut, Smith, Richard JH, Van Camp, Guy
יצא לאור 2009