학술논문
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'학술논문'
에서 검색결과 140건 | 목록
1~20
Academic Journal
Polla, Daniel L. ; Farazi Fard, Mohammad Ali ; Tabatabaei, Zahra ; Habibzadeh, Parham ; Levchenko, Olga A. ; Nikuei, Pooneh ; Makrythanasis, Periklis ; Hussain, Mureed ; von Hardenberg, Sandra ; Zeinali, Sirous ; Fallah, Mohammad-Sadegh ; Schuurs-Hoeijmakers, Janneke H.M. ; Shahzad, Mohsin ; Fatima, Fareeha ; Fatima, Neelam ; Kaat, Laura Donker ; Bruggenwirth, Hennie T. ; Fleming, Leah R. ; Condie, John ; Ploski, Rafal ; Pollak, Agnieszka ; Pilch, Jacek ; Demina, Nina A. ; Chukhrova, Alena L. ; Sergeeva, Vasilina S. ; Venselaar, Hanka ; Masri, Amira T. ; Hamamy, Hanan ; Santoni, Federico A. ; Linda, Katrin ; Ahmed, Zubair M. ; Nadif Kasri, Nael ; de Brouwer, Arjan P.M. ; Bergmann, Anke K. ; Hethey, Sven ; Yavarian, Majid ; Ansar, Muhammad ; Riazuddin, Saima ; Riazuddin, Sheikh ; Silawi, Mohammad ; Ruggeri, Gaia ; Pirozzi, Filomena ; Eftekhar, Ebrahim ; Taghipour Sheshdeh, Afsaneh ; Bahramjahan, Shima ; Mirzaa, Ghayda M. ; Lavrov, Alexander V. ; Antonarakis, Stylianos E. ; Faghihi, Mohammad Ali ; van Bokhoven, Hans
In Genetics in Medicine July 2021 23(7):1246-1254
Academic Journal
Giunta, Cecilia ; Baumann, Matthias ; Fauth, Christine ; Lindert, Uschi ; Abdalla, Ebtesam M. ; Brady, Angela F. ; Collins, James ; Dastgir, Jahannaz ; Donkervoort, Sandra ; Ghali, Neeti ; Johnson, Diana S. ; Kariminejad, Ariana ; Koch, Johannes ; Kraenzlin, Marius ; Lahiri, Nayana ; Lozic, Bernarda ; Manzur, Adnan Y. ; Morton, Jenny E.V. ; Pilch, Jacek ; Pollitt, Rebecca C. ; Schreiber, Gudrun ; Shannon, Nora L. ; Sobey, Glenda ; Vandersteen, Anthony ; van Dijk, Fleur S. ; Witsch-Baumgartner, Martina ; Zschocke, Johannes ; Pope, F. Michael ; Bönnemann, Carsten G. ; Rohrbach, Marianne
In Genetics in Medicine January 2018 20(1):42-54
Academic Journal
Zhe Zhang; Pilch, Jacek; Lundt, Samuel; Nannan Zhang; Yongchang Chang; Singer, Tracey; Śladowski, Dariusz; Xiao-Ling Hu; Lijun Zheng; Woo-Ping Ge; Hua Zhang; De-Pei Li; Xianlin Han; Ploski, Rafal; Shinghua Ding
Academic Journal
Maas, Saskia M. ; Shaw, Adam C. ; Bikker, Hennie ; Lüdecke, Hermann-Josef ; van der Tuin, Karin ; Badura-Stronka, Magdalena ; Belligni, Elga ; Biamino, Elisa ; Bonati, Maria Teresa ; Carvalho, Daniel R. ; Cobben, JanMaarten ; de Man, Stella A. ; Den Hollander, Nicolette S. ; Di Donato, Nataliya ; Garavelli, Livia ; Grønborg, Sabine ; Herkert, Johanna C. ; Hoogeboom, A. Jeannette M. ; Jamsheer, Aleksander ; Latos-Bielenska, Anna ; Maat-Kievit, Anneke ; Magnani, Cinzia ; Marcelis, Carlo ; Mathijssen, Inge B. ; Nielsen, Maartje ; Otten, Ellen ; Ousager, Lilian B. ; Pilch, Jacek ; Plomp, Astrid ; Poke, Gemma ; Poluha, Anna ; Posmyk, Renata ; Rieubland, Claudine ; Silengo, Margharita ; Simon, Marleen ; Steichen, Elisabeth ; Stumpel, Connie ; Szakszon, Katalin ; Polonkai, Edit ; van den Ende, Jenneke ; van der Steen, Antony ; van Essen, Ton ; van Haeringen, Arie ; van Hagen, Johanna M. ; Verheij, Joke B.G.M. ; Mannens, Marcel M. ; Hennekam, Raoul C.
In European Journal of Medical Genetics May 2015 58(5):279-292
Academic Journal
Stępniak, Iwona; Rakowicz, Maria; Lipczyńska-Łojkowska, Wanda; Sobańska, Anna; Elert-Dobkowska, Ewelina; Krysa, Wioletta; Rajkiewicz, Marta; Wasielewska-Hobot, Anna; Rudzińska, Monika; Pilch, Jacek; Makowicz, Grzegorz; Zaremba, Jacek; Sułek, Anna
Polish Journal of Neurology & Neurosurgery / Neurologia i Neurochirurgia Polska; 2025, Vol. 59 Issue 3, p283-291, 9p
Academic Journal
Machnikowska-Sokołowska, Magdalena; Fabrowicz, Piotr; Pilch, Jacek; Roesler, Weronika; Kuźniak, Mikołaj; Gruszczyńska, Katarzyna; Paprocka, Justyna
Academic Journal
Pilch, Jacek ; Asman, Marek ; Jamroz, Ewa ; Kajor, Maciej ; Kotrys-Puchalska, Elżbieta ; Goss, Małgorzata ; Krzak, Maria ; Witecka, Joanna ; Gmiński, Jan ; Sieroń, Aleksander L.
In Pediatric Neurology 2010 43(5):325-330
Academic Journal
Radziwonik-Fraczyk, Wiktoria; Elert-Dobkowska, Ewelina; Karpinski, Marek; Pilch, Jacek; Ziora-Jakutowicz, Karolina; Kubalska, Jolanta; Szczesniak, Dominika; Stepniak, Iwona; Zaremba, Jacek; Sulek, Anna
Neurogenetics; Jul2024, Vol. 25 Issue 3, p233-247, 15p
Academic Journal
Jakubiak, Aleksandra; Szczaluba, Krzysztof; Badura-Stronka, Magdalena; Kutkowska-Kazmierczak, Anna; Jakubiuk-Tomaszuk, Anna; Chilarska, Tatiana; Pilch, Jacek
Journal of Applied Genetics. September, 2021, Vol. 62 Issue 3, p477, 9 p.
Academic Journal
Elert-Dobkowska, Ewelina ; Stepniak, Iwona ; Krysa, Wioletta ; Rajkiewicz, Marta ; Rakowicz, Maria ; Sobanska, Anna ; Rudzinska, Monika ; Wasielewska, Anna ; Pilch, Jacek ; Kubalska, Jolanta ; Lipczynska-Lojkowska, Wanda ; Kulczycki, Jerzy ; Kurdziel, Katarzyna ; Sikorska, Agata ; Beetz, Christian ; Zaremba, Jacek ; Sulek, Anna
In Journal of the Neurological Sciences 15 December 2015 359(1-2):35-39
Academic Journal
Machnikowska-Sokolowska, Magdalena; Pilch, Jacek; Paprocka, Justyna; Rydzanicz, Malgorzata; Pollak, Agnieszka; Kosinska, Joanna; Gasperowicz, Piotr; Gruszczynska, Katarzyna; Emich-Widera, Ewa; Ploski, Rafal
Brain Sciences. November, 2020, Vol. 10 Issue 11, p1dc, 7 p.
Academic Journal
Modrzejewska, Sandra; Kotulska, Katarzyna; Kopyta, Ilona; Grędowska, Ewa; Emich-Widera, Ewa; Tomaszek, Katarzyna; Paprocka, Justyna; Chmielewski, Dariusz; Pilch, Jacek; Pietruszewski, Jerzy; Lemska, Anna; Zawadzka, Marta; Mazurkiewicz-Bełdzińska, Maria
Polish Journal of Neurology & Neurosurgery / Neurologia i Neurochirurgia Polska; 2021, Vol. 55 Issue 3, p289-294, 6p
Academic Journal
Ogrodnik, Magdalena; Chmielewski, Dariusz; Szwinge, Anna; Mazurkiewicz-Bełdzińska, Maria; Kostera-Pruszczyk, Anna; Giza, Wojciech; Szymańska, Małgorzata; Kierkus-Dłużyńska, Karina; Łusakowska, Anna; Wójcik, Adrianna; Frączek, Anna; Czyżyk, Elżbieta; Michalska, Joanna; Chrościńska-Krawczyk, Magdalena; Pilch, Jacek; Kotulska-Jóźwiak, Katarzyna
Child Neurology / Neurologia Dziecięca; 2021/2022, Vol. 31/32 Issue 60, p11-25, 15p
Academic Journal
MacKenzie, Katherine C.; Graaf, Bianca M.; Syrimis, Andreas; Zhao, Yuying; Brosens, Erwin; Mancini, Grazia M. S.; Schot, Rachel; Halley, Dicky; Wilke, Martina; Vøllo, Arve; Flinter, Frances; Green, Andrew; Mansour, Sahar; Pilch, Jacek; Stark, Zornitza; Zamba‐Papanicolaou, Eleni; Christophidou‐Anastasiadou, Violetta; Hofstra, Robert M. W.; Jongbloed, Jan D. H.; Nicolaou, Nayia
Human Mutation; Nov2020, Vol. 41 Issue 11, p1906-1917, 12p
Academic Journal
Balestrini, Simona; Mikati, Mohamad A.; Álvarez-García-Rovés, Reyes; Carboni, Michael; Hunanyan, Arsen S.; Kherallah, Bassil; McLean, Melissa; Prange, Lyndsey; De Grandis, Elisa; Gagliardi, Alessandra; Pisciotta, Livia; Stagnaro, Michela; Veneselli, Edvige; Campistol, Jaume; Fons, Carmen; Pias-Peleteiro, Leticia; Brashear, Allison; Miller, Charlotte; Samões, Raquel; Brankovic, Vesna; Padiath, Quasar S.; Potic, Ana; Pilch, Jacek; Vezyroglou, Aikaterini; Bye, Ann M.E.; Davis, Andrew M.; Ryan, Monique M.; Semsarian, Christopher; Hollingsworth, Georgina; Scheffer, Ingrid E.; Granata, Tiziana; Nardocci, Nardo; Ragona, Francesca; Arzimanoglou, Alexis; Panagiotakaki, Eleni; Carrilho, Inês; Zucca, Claudio; Novy, Jan; Dzieżyc, Karolina; Parowicz, Marek; Mazurkiewicz-Bełdzińska, Maria; Weckhuysen, Sarah; Pons, Roser; Groppa, Sergiu; Sinden, Daniel S.; Pitt, Geoffrey S.; Tinker, Andrew; Ashworth, Michael; Michalak, Zuzanna; Thom, Maria; Cross, J. Helen; Vavassori, Rosaria; Kaski, Juan P.; Sisodiya, Sanjay M.
Neurology. Nov 24, 2020 95(21):e2866-e2879
Book
Gos, Monika; Malinowska, Olga; Twardowska, Beata; Dawidziuk, Mateusz; Landowska, Aleksandra; Abramowicz, Anna; Kutkowska-Kaźmierczak, Anna; Braun-Walicka, Natalia; Klapecki, Jakub; Geremek, Maciej; Własienko, Paweł; Castaneda, Jennifer; Barczyk, Artur; Cichoń-Kotek, Monika; Bieszczad, Damian; Gintowt-Chakour, Aleksandra; Piotrowicz, Małgorzata; Chilarska, Tatiana; Wieczorek-Cichecka, Nina; Pilch, Jacek; Końska, Katarzyna; Janeczko, Magdalena; Fijak-Moskal, Jolanta; Wojciechowska, Katarzyna; Jaszczuk, Ilona; Posmyk, Renata; Jakubiuk-Tomaszuk, Anna; Badura-Stronka, Magdalena; Lassota, Maria; Szczałuba, Krzysztof; Śmigiel, Robert; Obersztyn, Ewa; Bal, Jerzy
Book
Malinowska, Olga; Kutkowska-Kaźmierczak, Anna; Śmigiel, Robert; Cichoń-Kotek, Monika; Gintowt-Chakour, Aleksandra; Castaneda, Jennifer; Klapecki, Jakub; Geremek, Maciej; Piotrowicz, Małgorzata; Wieczorek-Cichecka, Nina; Chilarska, Tatiana; Budzyńska, Edyta; Własienko, Paweł; Barczyk, Artur; Jaszczuk, Ilona; Wojciechowska, Katarzyna; Pilch, Jacek; Braun-Walicka, Natalia; Twardowska, Beata; Szczałuba, Krzysztof; Obersztyn, Ewa; Bal, Jerzy; Gos, Monika
Academic Journal
Smigiel, Robert; Pilch, Jacek; Makowska, Izabela; Busza, Halina; Slezak, Ryszard; Sasiadek, Maria; Sasiadek, Maria M
Academic Journal
Elert-Dobkowska, Ewelina; Stepniak, Iwona; Krysa, Wioletta; Ziora-Jakutowicz, Karolina; Rakowicz, Maria; Sobanska, Anna; Pilch, Jacek; Antczak-Marach, Dorota; Zaremba, Jacek; Sulek, Anna
Neurogenetics; Mar2019, Vol. 20 Issue 1, p27-38, 12p
Academic Journal
Zimowski, Janusz G.; Pilch, Jacek; Pawelec, Magdalena; Purzycka, Joanna K.; Kubalska, Jolanta; Ziora-Jakutowicz, Karolina; Dudzinska, Magdalena
Journal of Applied Genetics. August, 2017, Vol. 58 Issue 3, p343, 5 p.
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[AR] Pilch, Jacek
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