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Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome.
Jakubiak A, Szczałuba K, Badura-Stronka M, Kutkowska-Kaźmierczak A, Jakubiuk-Tomaszuk A, Chilarska T, Pilch J, Braun-Walicka N, Castaneda J, Wołyńska K, Wiśniewska M, Kugaudo M, Bielecka M, Pesz K, Wierzba J, Latos-Bieleńska A, Obersztyn E, Krajewska-Walasek M, Śmigiel R. Jakubiak A, et al. Among authors: pilch j. J Appl Genet. 2021 May 12. doi: 10.1007/s13353-021-00636-1. Online ahead of print. J Appl Genet. 2021. PMID: 33982229
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder.
Polla DL, Farazi Fard MA, Tabatabaei Z, Habibzadeh P, Levchenko OA, Nikuei P, Makrythanasis P, Hussain M, von Hardenberg S, Zeinali S, Fallah MS, Schuurs-Hoeijmakers JHM, Shahzad M, Fatima F, Fatima N, Kaat LD, Bruggenwirth HT, Fleming LR, Condie J, Ploski R, Pollak A, Pilch J, Demina NA, Chukhrova AL, Sergeeva VS, Venselaar H, Masri AT, Hamamy H, Santoni FA, Linda K, Ahmed ZM, Nadif Kasri N, de Brouwer APM, Bergmann AK, Hethey S, Yavarian M, Ansar M, Riazuddin S, Riazuddin S, Silawi M, Ruggeri G, Pirozzi F, Eftekhar E, Taghipour Sheshdeh A, Bahramjahan S, Mirzaa GM, Lavrov AV, Antonarakis SE, Faghihi MA, van Bokhoven H. Polla DL, et al. Among authors: pilch j. Genet Med. 2021 Apr 6. doi: 10.1038/s41436-021-01133-w. Online ahead of print. Genet Med. 2021. PMID: 33824500
Nusinersen treatment of Spinal Muscular Atrophy Type 1 - results of expanded access programme in Poland.
Modrzejewska S, Kotulska K, Kopyta I, Grędowska E, Emich-Widera E, Tomaszek K, Paprocka J, Chmielewski D, Pilch J, Pietruszewski J, Lemska A, Zawadzka M, Mazurkiewicz-Bełdzińska M. Modrzejewska S, et al. Among authors: pilch j. Neurol Neurochir Pol. 2021 Feb 10. doi: 10.5603/PJNNS.a2021.0020. Online ahead of print. Neurol Neurochir Pol. 2021. PMID: 33565602 Free article.
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