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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

39 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3.
Kutkowska-Kaźmierczak A, Boczar M, Kalka E, Castañeda J, Klapecki J, Pietrzyk A, Barczyk A, Malinowska O, Landowska A, Gambin T, Kowalczyk K, Wiśniowiecka-Kowalnik B, Smyk M, Dawidziuk M, Niepokój K, Paczkowska M, Szyld P, Lipska-Ziętkiewicz B, Szczałuba K, Kostyk E, Runge A, Rutkowska K, Płoski R, Nowakowska B, Bal J, Obersztyn E, Gos M. Kutkowska-Kaźmierczak A, et al. Among authors: boczar m. Genes (Basel). 2021 Aug 17;12(8):1257. doi: 10.3390/genes12081257. Genes (Basel). 2021. PMID: 34440431 Free PMC article.
Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia.
Smigiel R, Sherman DL, Rydzanicz M, Walczak A, Mikolajkow D, Krolak-Olejnik B, Kosinska J, Gasperowicz P, Biernacka A, Stawinski P, Marciniak M, Andrzejewski W, Boczar M, Krajewski P, Sasiadek MM, Brophy PJ, Ploski R. Smigiel R, et al. Among authors: boczar m. Hum Mol Genet. 2018 Nov 1;27(21):3669-3674. doi: 10.1093/hmg/ddy277. Hum Mol Genet. 2018. PMID: 30124836 Free PMC article.
[Congenital duodenal obstruction - part II].
Sawicka E, Boczar M, Michalak J, Płoska-Urbanek B. Sawicka E, et al. Among authors: boczar m. Med Wieku Rozwoj. 2004 Jul-Sep;8(3 Pt 2):751-9. Med Wieku Rozwoj. 2004. PMID: 15858247 Polish.
Neurocutaneous melanosis in children with giant congenital melanocytic nevi.
Bekiesinska-Figatowska M, Szczygielski O, Boczar M, Madzik J, Klepacka T, Michalak E, Romaniuk-Doroszewska A, Uliasz M, Peczkowski P, Sawicka E. Bekiesinska-Figatowska M, et al. Among authors: boczar m. Clin Imaging. 2014 Mar-Apr;38(2):79-84. doi: 10.1016/j.clinimag.2013.10.001. Epub 2013 Oct 16. Clin Imaging. 2014. PMID: 24239041
[Congenital duodenal obstruction -- Part I].
Sawicka E, Boczar M, Michalak J, Płoska-Urbanek B. Sawicka E, et al. Among authors: boczar m. Med Wieku Rozwoj. 2004 Jul-Sep;8(3 Pt 2):745-50. Med Wieku Rozwoj. 2004. PMID: 15858246 Review. Polish.
39 results