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Year Number of Results
2009 1
2013 2
2014 2
2016 2
2017 3
2018 3
2019 4
2020 7
2021 5
2022 4
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27 results
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Page 1
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, Wilson LC, Wollnik B, Kosho T, Wieczorek D, Eichler E, Pfundt R, de Vries BBA, Clayton-Smith J, Santen GWE. van der Sluijs PJ, et al. Among authors: beck wodl s. 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.
The adult phenotype of Schaaf-Yang syndrome.
Marbach F, Elgizouli M, Rech M, Beygo J, Erger F, Velmans C, Stumpel CTRM, Stegmann APA, Beck-Wödl S, Gillessen-Kaesbach G, Horsthemke B, Schaaf CP, Kuechler A. Marbach F, et al. Among authors: beck wodl s. Orphanet J Rare Dis. 2020 Oct 19;15(1):294. doi: 10.1186/s13023-020-01557-8. Orphanet J Rare Dis. 2020. PMID: 33076953 Free PMC article.
Citrin deficiency mimicking mitochondrial depletion syndrome.
Grünert SC, Schumann A, Freisinger P, Rosenbaum-Fabian S, Schmidts M, Mueller AJ, Beck-Wödl S, Haack TB, Schneider H, Fuchs H, Teufel U, Gramer G, Hannibal L, Spiekerkoetter U. Grünert SC, et al. Among authors: beck wodl s. BMC Pediatr. 2020 Nov 11;20(1):518. doi: 10.1186/s12887-020-02409-x. BMC Pediatr. 2020. PMID: 33176737 Free PMC article.
Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex.
Falb RJ, Müller AJ, Klein W, Grimmel M, Grasshoff U, Spranger S, Stöbe P, Gauck D, Kuechler A, Dikow N, Schwaibold EMC, Schmidt C, Averdunk L, Buchert R, Heinrich T, Prodan N, Park J, Kehrer M, Sturm M, Kelemen O, Hartmann S, Horn D, Emmerich D, Hirt N, Neumann A, Kristiansen G, Gembruch U, Haen S, Siebert R, Hentze S, Hoopmann M, Ossowski S, Waldmüller S, Beck-Wödl S, Gläser D, Tekesin I, Distelmaier F, Riess O, Kagan KO, Dufke A, Haack TB. Falb RJ, et al. Among authors: beck wodl s. J Med Genet. 2021 Nov 5:jmedgenet-2021-108064. doi: 10.1136/jmedgenet-2021-108064. Online ahead of print. J Med Genet. 2021. PMID: 34740919 Free article.
Phenotypic variation between siblings with Metachromatic Leukodystrophy.
Elgün S, Waibel J, Kehrer C, van Rappard D, Böhringer J, Beck-Wödl S, Just J, Schöls L, Wolf N, Krägeloh-Mann I, Groeschel S. Elgün S, et al. Among authors: beck wodl s. Orphanet J Rare Dis. 2019 Jun 11;14(1):136. doi: 10.1186/s13023-019-1113-6. Orphanet J Rare Dis. 2019. PMID: 31186049 Free PMC article.
Clinical, ocular motor, and imaging profile of Niemann-Pick type C heterozygosity.
Bremova-Ertl T, Sztatecsny C, Brendel M, Moser M, Möller B, Clevert DA, Beck-Wödl S, Kun-Rodrigues C, Bras J, Rominger A, Ninov D, Strupp M, Schneider SA. Bremova-Ertl T, et al. Among authors: beck wodl s. Neurology. 2020 Apr 21;94(16):e1702-e1715. doi: 10.1212/WNL.0000000000009290. Epub 2020 Mar 31. Neurology. 2020. PMID: 32234823
Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families.
Grünert SC, Hannibal L, Schumann A, Rosenbaum-Fabian S, Beck-Wödl S, Haack TB, Grimmel M, Bertrand M, Spiekerkoetter U. Grünert SC, et al. Among authors: beck wodl s. Diagnostics (Basel). 2021 Mar 12;11(3):500. doi: 10.3390/diagnostics11030500. Diagnostics (Basel). 2021. PMID: 33809020 Free PMC article.
27 results