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

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2004 1
2007 1
2008 1
2009 1
2010 1
2012 1
2013 1
2014 3
2015 4
2016 6
2017 9
2018 12
2019 10
2020 10
2021 8
2022 5
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

67 results

Results by year

Filters applied: . Clear all
Page 1
Destabilization of mutated human PUS3 protein causes intellectual disability.
Lin TY, Smigiel R, Kuzniewska B, Chmielewska JJ, Kosińska J, Biela M, Biela A, Kościelniak A, Dobosz D, Laczmanska I, Chramiec-Głąbik A, Jeżowski J, Nowak J, Gos M, Rzonca-Niewczas S, Dziembowska M, Ploski R, Glatt S. Lin TY, et al. Among authors: kosinska j. Hum Mutat. 2022 Dec;43(12):2063-2078. doi: 10.1002/humu.24471. Epub 2022 Oct 2. Hum Mutat. 2022. PMID: 36125428 Free PMC article.
Variants in the pancreatic CUB and zona pellucida-like domains 1 (CUZD1) gene in early-onset chronic pancreatitis - A possible new susceptibility gene.
Rygiel AM, Unger LS, Sörgel FL, Masson E, Matsumoto R, Ewers M, Chen JM, Bugert P, Buscail L, Gambin T, Oracz G, Winiewska-Szajewska M, Mianowska A, Poznanski J, Kosińska J, Stawinski P, Płoski R, Koziel D, Gluszek S, Laumen H, Lindgren F, Löhr JM, Orekhova A, Rebours V, Rosendahl J, Párniczky A, Hegyi P, Sasaki A, Kataoka F, Tanaka Y, Hamada S, Sahin-Tóth M, Hegyi E, Férec C, Masamune A, Witt H. Rygiel AM, et al. Among authors: kosinska j. Pancreatology. 2022 Jun;22(5):564-571. doi: 10.1016/j.pan.2022.04.015. Epub 2022 May 1. Pancreatology. 2022. PMID: 35589511 Free PMC article.
FINCA syndrome-Defining neurobehavioral phenotype in survivors into late childhood.
Badura-Stronka M, Śmigiel R, Rutkowska K, Szymańska K, Hirschfeld AS, Monkiewicz M, Kosińska J, Wolańska E, Rydzanicz M, Latos-Bieleńska A, Płoski R. Badura-Stronka M, et al. Among authors: kosinska j. Mol Genet Genomic Med. 2022 Apr;10(4):e1899. doi: 10.1002/mgg3.1899. Epub 2022 Mar 7. Mol Genet Genomic Med. 2022. PMID: 35255187 Free PMC article.
Authors' response to Dr Finsterer's comment "Exclude differentials before diagnosing SARS-CoV-2-associated acute hemorrhagic necrotizing encephalitis" (THEIJID-D-22-00008).
Mierzewska-Schmidt M, Baranowski A, Szymanska K, Ciaston M, Kuchar E, Ploski R, Kosinska J, Pagowska-Klimek I. Mierzewska-Schmidt M, et al. Among authors: kosinska j. Int J Infect Dis. 2022 May;118:52-53. doi: 10.1016/j.ijid.2022.02.014. Epub 2022 Feb 10. Int J Infect Dis. 2022. PMID: 35151853 Free PMC article. No abstract available.
WDR13: A Novel Gene Implicated in Non-Syndromic Intellectual Disability.
Rzońca-Niewczas S, Wierzba J, Kaczorowska E, Poryszewska M, Kosińska J, Stawiński P, Płoski R, Bal J. Rzońca-Niewczas S, et al. Among authors: kosinska j. Genes (Basel). 2021 Nov 28;12(12):1911. doi: 10.3390/genes12121911. Genes (Basel). 2021. PMID: 34946860 Free PMC article.
Loss of function TRPV6 variants are associated with chronic pancreatitis in nonalcoholic early-onset Polish and German patients.
Oracz G, Zaród M, Ewers M, Laumen H, Gambin T, Kamiński P, Grabowska I, Drożak A, Kwiatkowski S, Wertheim-Tysarowska K, Kołodziejczyk E, Domaszewicz A, Dorożko B, Kosińska J, Głuszek S, Kozieł D, Płoski R, Rosendahl J, Witt H, Drożak J, Rygiel AM. Oracz G, et al. Among authors: kosinska j. Pancreatology. 2021 Dec;21(8):1434-1442. doi: 10.1016/j.pan.2021.09.005. Epub 2021 Sep 10. Pancreatology. 2021. PMID: 34538581
Brain Tissue Low-Level Mosaicism for MTOR Mutation Causes Smith-Kingsmore Phenotype with Recurrent Hypoglycemia-A Novel Phenotype and a Further Proof for Testing of an Affected Tissue.
Szczałuba K, Rydzanicz M, Walczak A, Kosińska J, Koppolu A, Biernacka A, Iwanicka-Pronicka K, Grajkowska W, Jurkiewicz E, Kowalczyk P, Płoski R. Szczałuba K, et al. Among authors: kosinska j. Diagnostics (Basel). 2021 Jul 15;11(7):1269. doi: 10.3390/diagnostics11071269. Diagnostics (Basel). 2021. PMID: 34359351 Free PMC article.
67 results