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

Year Number of Results
1977 1
1980 4
1981 2
1983 3
1984 2
1985 2
1986 1
1987 4
1988 1
1989 4
1990 1
1991 1
1992 2
1993 1
1994 3
1995 5
1996 3
1998 4
1999 2
2000 6
2001 6
2002 1
2003 1
2004 3
2005 4
2006 4
2007 4
2008 5
2009 7
2010 8
2011 5
2012 7
2013 6
2014 7
2015 9
2016 10
2017 4
2018 5
2019 5
2020 4
2021 5
2022 2
2023 1
2024 0

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146 results

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Page 1
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER. Brioude F, et al. Among authors: krajewska walasek m. Nat Rev Endocrinol. 2018 Apr;14(4):229-249. doi: 10.1038/nrendo.2017.166. Epub 2018 Jan 29. Nat Rev Endocrinol. 2018. PMID: 29377879 Free PMC article. Review.
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Sanchis Calvo A, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilso… See abstract for full author list ➔ van der Sluijs PJ, et al. Among authors: krajewska walasek m. Genet Med. 2019 Jun;21(6):1295-1307. doi: 10.1038/s41436-018-0330-z. Epub 2018 Nov 8. Genet Med. 2019. PMID: 30349098 Free PMC article.
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
Pronicka E, Piekutowska-Abramczuk D, Ciara E, Trubicka J, Rokicki D, Karkucińska-Więckowska A, Pajdowska M, Jurkiewicz E, Halat P, Kosińska J, Pollak A, Rydzanicz M, Stawinski P, Pronicki M, Krajewska-Walasek M, Płoski R. Pronicka E, et al. Among authors: krajewska walasek m. J Transl Med. 2016 Jun 12;14(1):174. doi: 10.1186/s12967-016-0930-9. J Transl Med. 2016. PMID: 27290639 Free PMC article.
Genetic causes of syndromic craniosynostoses.
Jezela-Stanek A, Krajewska-Walasek M. Jezela-Stanek A, et al. Among authors: krajewska walasek m. Eur J Paediatr Neurol. 2013 May;17(3):221-4. doi: 10.1016/j.ejpn.2012.09.009. Epub 2012 Oct 11. Eur J Paediatr Neurol. 2013. PMID: 23062756 Review.
Anthropometric characteristics of 65 Polish Smith-Lemli-Opitz patients.
Różdżyńska-Świątkowska A, Ciara E, Halat-Wolska P, Krajewska-Walasek M, Jezela-Stanek A. Różdżyńska-Świątkowska A, et al. Among authors: krajewska walasek m. J Appl Genet. 2021 Sep;62(3):469-475. doi: 10.1007/s13353-021-00632-5. Epub 2021 Apr 22. J Appl Genet. 2021. PMID: 33890232
Melnick-Needles syndrome.
Krajewska-Walasek M, Kozlowski K. Krajewska-Walasek M, et al. Australas Radiol. 1994 May;38(2):146-7. doi: 10.1111/j.1440-1673.1994.tb00158.x. Australas Radiol. 1994. PMID: 8024513 No abstract available.
Clinical heterogeneity of polish patients with KAT6B-related disorder.
Klaniewska M, Bolanowska-Tyszko A, Latos-Bielenska A, Jezela-Stanek A, Szczaluba K, Krajewska-Walasek M, Ciara E, Pelc M, Jurkiewicz D, Stawinski P, Zubkiewicz-Kucharska A, Rydzanicz M, Ploski R, Smigiel R. Klaniewska M, et al. Among authors: krajewska walasek m. Mol Genet Genomic Med. 2023 Dec;11(12):e2265. doi: 10.1002/mgg3.2265. Epub 2023 Sep 1. Mol Genet Genomic Med. 2023. PMID: 37658610 Free PMC article.
Eleven Polish patients with microcephaly, immunodeficiency, and chromosomal instability: the Nijmegen breakage syndrome.
Chrzanowska KH, Kleijer WJ, Krajewska-Walasek M, Białecka M, Gutkowska A, Goryluk-Kozakiewicz B, Michałkiewicz J, Stachowski J, Gregorek H, Lysón-Wojciechowska G, et al. Chrzanowska KH, et al. Among authors: krajewska walasek m. Am J Med Genet. 1995 Jul 3;57(3):462-71. doi: 10.1002/ajmg.1320570321. Am J Med Genet. 1995. PMID: 7545870 Review.
Phenotype expansion and development in Kosaki overgrowth syndrome.
Gawliński P, Pelc M, Ciara E, Jhangiani S, Jurkiewicz E, Gambin T, Różdżyńska-Świątkowska A, Dawidziuk M, Coban-Akdemir ZH, Guilbride DL, Muzny D, Lupski JR, Krajewska-Walasek M. Gawliński P, et al. Among authors: krajewska walasek m. Clin Genet. 2018 Apr;93(4):919-924. doi: 10.1111/cge.13192. Clin Genet. 2018. PMID: 29226947
146 results