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Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.
Genes (Basel). 2021 Dec 18;12(12):2014. doi: 10.3390/genes12122014.
Genes (Basel). 2021.
PMID: 34946966
Free PMC article.
Immune Dysregulation in Patients With Chromosome 18q Deletions-Searching for Putative Loci for Autoimmunity and Immunodeficiency.
Hogendorf A, Zieliński M, Constantinou M, Śmigiel R, Wierzba J, Wyka K, Wędrychowicz A, Jakubiuk-Tomaszuk A, Budzynska E, Piotrowicz M, Lipska-Ziętkiewicz BS, Kaczorowska E, Cieślikowska A, Kutkowska-Kaźmierczak A, Fijak-Moskal J, Kugaudo M, Kosińska-Urbańska M, Szadkowska A, Borowiec M, Niedźwiecki M, Trzonkowski P, Młynarski W.
Hogendorf A, et al. Among authors: fijak moskal j.
Front Immunol. 2021 Nov 17;12:742834. doi: 10.3389/fimmu.2021.742834. eCollection 2021.
Front Immunol. 2021.
PMID: 34867966
Free PMC article.
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Developmental delay with hypotrophy associated with homozygous functionally relevant REV3L variant.
Halas A, Fijak-Moskal J, Kuberska R, Murcia Pienkowski V, Kaniak-Golik A, Pollak A, Poznanski J, Rydzanicz M, Bik-Multanowski M, Sledziewska-Gojska E, Płoski R.
Halas A, et al. Among authors: fijak moskal j.
J Mol Med (Berl). 2021 Mar;99(3):415-423. doi: 10.1007/s00109-020-02033-3. Epub 2021 Jan 20.
J Mol Med (Berl). 2021.
PMID: 33474647
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[Familial case of oral-facial-digital syndrome type 1 (OFD 1)].
Miklaszewska M, Zachwieja K, Herman-Sucharska I, Drozdz D, Fijak-Moskal J, Gergont A, Kowalska-Duplaga K, Cieszkowska M, Pacia-Medrek B, Pietrzyk JA.
Miklaszewska M, et al. Among authors: fijak moskal j.
Przegl Lek. 2014;71(2):110-4.
Przegl Lek. 2014.
PMID: 25016787
Polish.
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