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Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant.
Jezela-Stanek A, Kucharczyk M, Falana K, Jurkiewicz D, Mlynek M, Wicher D, Rydzanicz M, Kugaudo M, Cieslikowska A, Ciara E, Ploski R, Krajewska-Walasek M. Jezela-Stanek A, et al. Among authors: wicher d. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2016 Mar;160(1):161-7. doi: 10.5507/bp.2016.006. Epub 2016 Feb 29. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2016. PMID: 26927468 Free article. Review.
Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6, KLF13 and UBR3 Genes to Novel Disease Phenotype.
Murcia Pienkowski V, Kucharczyk M, Rydzanicz M, Poszewiecka B, Pachota K, Młynek M, Stawiński P, Pollak A, Kosińska J, Wojciechowska K, Lejman M, Cieślikowska A, Wicher D, Stembalska A, Matuszewska K, Materna-Kiryluk A, Gambin A, Chrzanowska K, Krajewska-Walasek M, Płoski R. Murcia Pienkowski V, et al. Among authors: wicher d. J Clin Med. 2020 Apr 25;9(5):1245. doi: 10.3390/jcm9051245. J Clin Med. 2020. PMID: 32344861 Free PMC article.
Occurrence of Portal Hypertension and Its Clinical Course in Patients With Molecularly Confirmed Autosomal Recessive Polycystic Kidney Disease (ARPKD).
Wicher D, Grenda R, Teisseyre M, Szymczak M, Halat-Wolska P, Jurkiewicz D, Liebau MC, Ciara E, Rydzanicz M, Kosińska J, Chrzanowska K, Jankowska I. Wicher D, et al. Front Pediatr. 2020 Nov 12;8:591379. doi: 10.3389/fped.2020.591379. eCollection 2020. Front Pediatr. 2020. PMID: 33282801 Free PMC article.
Clinical courses and complications of young adults with Autosomal Recessive Polycystic Kidney Disease (ARPKD).
Burgmaier K, Kilian S, Bammens B, Benzing T, Billing H, Büscher A, Galiano M, Grundmann F, Klaus G, Mekahli D, Michel-Calemard L, Milosevski-Lomic G, Ranchin B, Sauerstein K, Schaefer S, Shroff R, Sterenborg R, Verbeeck S, Weber LT, Wicher D, Wühl E, Dötsch J, Schaefer F, Liebau MC. Burgmaier K, et al. Among authors: wicher d. Sci Rep. 2019 May 28;9(1):7919. doi: 10.1038/s41598-019-43488-w. Sci Rep. 2019. PMID: 31138820 Free PMC article.
Rationale, design and objectives of ARegPKD, a European ARPKD registry study.
Ebner K, Feldkoetter M, Ariceta G, Bergmann C, Buettner R, Doyon A, Duzova A, Goebel H, Haffner D, Hero B, Hoppe B, Illig T, Jankauskiene A, Klopp N, König J, Litwin M, Mekahli D, Ranchin B, Sander A, Testa S, Weber LT, Wicher D, Yuzbasioglu A, Zerres K, Dötsch J, Schaefer F, Liebau MC; ESCAPE Study Group; GPN Study Group. Ebner K, et al. Among authors: wicher d. BMC Nephrol. 2015 Feb 18;16:22. doi: 10.1186/s12882-015-0002-z. BMC Nephrol. 2015. PMID: 25886171 Free PMC article.
80 results