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

Year Number of Results
1971 1
1973 2
1975 1
1976 1
1977 2
1978 1
1979 2
1991 1
1992 1
1995 1
1998 6
1999 9
2000 3
2001 1
2003 1
2007 2
2008 4
2009 3
2010 8
2011 3
2012 4
2013 2
2014 5
2015 6
2016 6
2017 6
2018 3
2019 3
2020 10
2021 7
2022 9
2023 6
2024 4

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105 results

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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: magner m. 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.
On the way to early diagnosis.
Magner M. Magner M. Eur J Paediatr Neurol. 2024 Jan;48:A4. doi: 10.1016/j.ejpn.2024.02.012. Epub 2024 Feb 22. Eur J Paediatr Neurol. 2024. PMID: 38403569 No abstract available.
Clinical manifestation of mitochondrial diseases.
Magner M, Kolářová H, Honzik T, Švandová I, Zeman J. Magner M, et al. Dev Period Med. 2015 Oct-Dec;19(4):441-9. Dev Period Med. 2015. PMID: 26982751 Review.
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: magner m. 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.
Sideroblastic anemia associated with multisystem mitochondrial disorders.
Tesarova M, Vondrackova A, Stufkova H, Veprekova L, Stranecky V, Berankova K, Hansikova H, Magner M, Galoova N, Honzik T, Vodickova E, Stary J, Zeman J. Tesarova M, et al. Among authors: magner m. Pediatr Blood Cancer. 2019 Apr;66(4):e27591. doi: 10.1002/pbc.27591. Epub 2018 Dec 26. Pediatr Blood Cancer. 2019. PMID: 30588737
GPD1 Deficiency - Underdiagnosed Cause of Liver Disease.
Tesarova M, Stranecky V, Konecna P, Prochazkova D, Hulkova H, Zeman J, Honzik T, Magner M. Tesarova M, et al. Among authors: magner m. Indian J Pediatr. 2021 Jan;88(1):80-81. doi: 10.1007/s12098-020-03385-x. Epub 2020 Jun 26. Indian J Pediatr. 2021. PMID: 32591995 No abstract available.
Pitfalls of X-chromosome inactivation testing in females with Fabry disease.
Řeboun M, Sikora J, Magner M, Wiederlechnerová H, Černá A, Poupětová H, Štorkánova G, Mušálková D, Dostálová G, Goláň L, Linhart A, Dvořáková L. Řeboun M, et al. Among authors: magner m. Am J Med Genet A. 2022 Jul;188(7):1979-1989. doi: 10.1002/ajmg.a.62728. Epub 2022 Mar 26. Am J Med Genet A. 2022. PMID: 35338595
105 results