Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

3 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.
Dawidziuk M, Gambin T, Bukowska-Olech E, Antczak-Marach D, Badura-Stronka M, Buda P, Budzynska E, Castaneda J, Chilarska T, Czyzyk E, Eckersdorf-Mastalerz A, Fijak-Moskal J, Gieruszczak-Bialek D, Glodek-Brzozowska E, Goszczanska-Ciuchta A, Grzeszykowska-Podymniak M, Gurda B, Jakubiuk-Tomaszuk A, Jamroz E, Janeczko M, Jedlińska-Pijanowska D, Jurek M, Karolewska D, Kazmierczak A, Kleist T, Kochanowska I, Krajewska-Walasek M, Kufel K, Kutkowska-Kaźmierczak A, Lipiec A, Maksym-Gasiorek D, Materna-Kiryluk A, Mazurkiewicz H, Milewski M, Pavina-Guglas T, Pietrzyk A, Posmyk R, Pyrkosz A, Rudzka-Dybala M, Slezak R, Wisniewska M, Zalewska-Miszkurka Z, Szczepanik E, Obersztyn E, Bekiesinska-Figatowska M, Gawlinski P, Wiszniewski W. Dawidziuk M, et al. Among authors: maksym gasiorek d. Genes (Basel). 2021 Dec 18;12(12):2014. doi: 10.3390/genes12122014. Genes (Basel). 2021. PMID: 34946966 Free PMC article.
Trisomy 22pter-q12.3 presenting with hepatic dysfunction variability of cat-eye syndrome.
Jezela-Stanek A, Dobrzańska A, Maksym-Gąsiorek D, Trzeciakowski W, Gutkowska A, Olczak-Kowalczyk D, Gajdulewicz M, Spodar K, Czech-Kowalska J, Krajewska-Walasek M. Jezela-Stanek A, et al. Among authors: maksym gasiorek d. Clin Dysmorphol. 2009 Jan;18(1):13-17. doi: 10.1097/MCD.0b013e328317c884. Clin Dysmorphol. 2009. PMID: 18955897
Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations.
Holubova V, Barone R, Grunewald S, Tesařová M, Hansíková H, Augustínová J, Sykut-Cegielska J, De Nictolis F, Diaz-Moreno U, Elangovan R, Epifani F, Gasperini S, Jansen M, Lefeber D, Maksym-Gasiorek D, Diego M, Ounap K, Pettinato F, Põder H, Rymen D, Vals MA, Serrano M, Witters P, Honzík T. Holubova V, et al. Among authors: maksym gasiorek d. J Inherit Metab Dis. 2025 Jan;48(1):e12826. doi: 10.1002/jimd.12826. Epub 2024 Dec 5. J Inherit Metab Dis. 2025. PMID: 39633515