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
1967 1
1971 1
1976 1
1988 1
1990 1
1994 1
1997 1
1999 1
2000 1
2001 1
2003 1
2006 1
2007 2
2008 4
2009 1
2010 3
2011 2
2012 1
2013 3
2014 1
2015 2
2016 1
2017 1
2018 1
2019 1
2020 7
2021 4
2022 5
2023 9

Text availability

Article attribute

Article type

Publication date

Search Results

52 results

Results by year

Filters applied: . Clear all
Page 1
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Hiatt SM, Trajkova S, Sebastiano MR, Partridge EC, Abidi FE, Anderson A, Ansar M, Antonarakis SE, Azadi A, Bachmann-Gagescu R, Bartuli A, Benech C, Berkowitz JL, Betti MJ, Brusco A, Cannon A, Caron G, Chen Y, Cochran ME, Coleman TF, Crenshaw MM, Cuisset L, Curry CJ, Darvish H, Demirdas S, Descartes M, Douglas J, Dyment DA, Elloumi HZ, Ermondi G, Faoucher M, Farrow EG, Felker SA, Fisher H, Hurst ACE, Joset P, Kelly MA, Kmoch S, Leadem BR, Lyons MJ, Macchiaiolo M, Magner M, Mandrile G, Mattioli F, McEown M, Meadows SK, Medne L, Meeks NJL, Montgomery S, Napier MP, Natowicz M, Newberry KM, Niceta M, Noskova L, Nowak CB, Noyes AG, Osmond M, Prijoles EJ, Pugh J, Pullano V, Quélin C, Rahimi-Aliabadi S, Rauch A, Redon S, Reymond A, Schwager CR, Sellars EA, Scheuerle AE, Shukarova-Angelovska E, Skraban C, Stolerman E, Sullivan BR, Tartaglia M, Thiffault I, Uguen K, Umaña LA, van Bever Y, van der Crabben SN, van Slegtenhorst MA, Waisfisz Q, Washington C, Rodan LH, Myers RM, Cooper GM. Hiatt SM, et al. Among authors: noskova l. Am J Hum Genet. 2023 Feb 2;110(2):215-227. doi: 10.1016/j.ajhg.2022.12.007. Epub 2022 Dec 30. Am J Hum Genet. 2023. PMID: 36586412 Free PMC article.
Impaired intestinal permeability in patients with multiple sclerosis.
Fialova L, Barilly P, Stetkarova I, Bartos A, Noskova L, Zimova D, Zido M, Hoffmanova I. Fialova L, et al. Among authors: noskova l. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2023 Aug 11. doi: 10.5507/bp.2023.033. Online ahead of print. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2023. PMID: 37581230
Diagnostic delay of multiple sclerosis: prevalence, determinants and consequences.
Uher T, Adzima A, Srpova B, Noskova L, Maréchal B, Maceski AM, Krasensky J, Stastna D, Andelova M, Novotna K, Vodehnalova K, Motyl J, Friedova L, Lindner J, Ravano V, Burgetova A, Dusek P, Fialova L, Havrdova EK, Horakova D, Kober T, Kuhle J, Vaneckova M. Uher T, et al. Among authors: noskova l. Mult Scler. 2023 Oct;29(11-12):1437-1451. doi: 10.1177/13524585231197076. Mult Scler. 2023. PMID: 37840276 Free PMC article.
GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy.
Cediel ML, Stawarski M, Blanc X, Nosková L, Magner M, Platzer K, Gburek-Augustat J, Baldridge D, Constantino JN, Ranza E, Bettler B, Antonarakis SE. Cediel ML, et al. Among authors: noskova l. Am J Hum Genet. 2022 Oct 6;109(10):1885-1893. doi: 10.1016/j.ajhg.2022.08.010. Epub 2022 Sep 13. Am J Hum Genet. 2022. PMID: 36103875 Free PMC article.
A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis.
Sikora J, Kmochová T, Mušálková D, Pohludka M, Přikryl P, Hartmannová H, Hodaňová K, Trešlová H, Nosková L, Mrázová L, Stránecký V, Lunová M, Jirsa M, Honsová E, Dasari S, McPhail ED, Leung N, Živná M, Bleyer AJ, Rychlík I, Ryšavá R, Kmoch S. Sikora J, et al. Among authors: noskova l. Kidney Int. 2022 Feb;101(2):349-359. doi: 10.1016/j.kint.2021.09.007. Epub 2021 Sep 21. Kidney Int. 2022. PMID: 34560138
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome.
Stenton SL, Tesarova M, Sheremet NL, Catarino CB, Carelli V, Ciara E, Curry K, Engvall M, Fleming LR, Freisinger P, Iwanicka-Pronicka K, Jurkiewicz E, Klopstock T, Koenig MK, Kolářová H, Kousal B, Krylova T, La Morgia C, Nosková L, Piekutowska-Abramczuk D, Russo SN, Stránecký V, Tóthová I, Träisk F, Prokisch H. Stenton SL, et al. Among authors: noskova l. Brain. 2022 Jun 3;145(5):1624-1631. doi: 10.1093/brain/awac052. Brain. 2022. PMID: 35148383 Free PMC article.
Rare copy number variation in extremely impulsively violent males.
Vevera J, Zarrei M, Hartmannová H, Jedličková I, Mušálková D, Přistoupilová A, Oliveriusová P, Trešlová H, Nosková L, Hodaňová K, Stránecký V, Jiřička V, Preiss M, Příhodová K, Šaligová J, Wei J, Woodbury-Smith M, Bleyer AJ, Scherer SW, Kmoch S. Vevera J, et al. Among authors: noskova l. Genes Brain Behav. 2019 Jul;18(6):e12536. doi: 10.1111/gbb.12536. Epub 2018 Dec 3. Genes Brain Behav. 2019. PMID: 30411505 Free article.
52 results