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Page 1
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
Glinton KE, Hurst ACE, Bowling KM, Cristian I, Haynes D, Adstamongkonkul D, Schnappauf O, Beck DB, Brewer C, Parikh AS, Shinde DN, Donaldson A, Brautbar A, Koene S, van Haeringen A, Piton A, Capri Y, Furlan M, Gardella E, Møller RS, van de Beek I, Zuurbier L, Lakeman P, Bayat A, Martinez J, Signer R, Torring PM, Engelund MB, Gripp KW, Amlie-Wolf L, Henderson LB, Midro AT, Tarasów E, Stasiewicz-Jarocka B, Moskal-Jasinska D, Vos P, Boschann F, Stoltenburg C, Puk O, Mero IL, Lossius K, Mignot C, Keren B, Acosta Guio JC, Briceño I, Gomez A, Yang Y, Stankiewicz P. Glinton KE, et al. Among authors: moller rs. Am J Med Genet A. 2021 May;185(5):1366-1378. doi: 10.1002/ajmg.a.62102. Epub 2021 Jan 31. Am J Med Genet A. 2021. PMID: 33522091 Free PMC article.
Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice.
Jønch AE, Douard E, Moreau C, Van Dijck A, Passeggeri M, Kooy F, Puechberty J, Campbell C, Sanlaville D, Lefroy H, Richetin S, Pain A, Geneviève D, Kini U, Le Caignec C, Lespinasse J, Skytte AB, Isidor B, Zweier C, Caberg JH, Delrue MA, Møller RS, Bojesen A, Hjalgrim H, Brasch-Andersen C, Lemyre E, Ousager LB, Jacquemont S; 15q11.2 Working Group. Jønch AE, et al. Among authors: moller rs. J Med Genet. 2019 Oct;56(10):701-710. doi: 10.1136/jmedgenet-2018-105879. Epub 2019 Aug 26. J Med Genet. 2019. PMID: 31451536 Free PMC article.
Investigation of 4q-deletion in two unrelated patients using array CGH.
Kaalund SS, Møller RS, Tészás A, Miranda M, Kosztolanyi G, Ullmann R, Tommerup N, Tümer Z. Kaalund SS, et al. Among authors: moller rs. Am J Med Genet A. 2008 Sep 15;146A(18):2431-4. doi: 10.1002/ajmg.a.32458. Am J Med Genet A. 2008. PMID: 18688872 No abstract available.
Adult phenotype of KCNQ2 encephalopathy.
Boets S, Johannesen KM, Destree A, Manti F, Ramantani G, Lesca G, Vercueil L, Koenig MK, Striano P, Møller RS, Cooper E, Weckhuysen S. Boets S, et al. Among authors: moller rs. J Med Genet. 2022 Jun;59(6):528-535. doi: 10.1136/jmedgenet-2020-107449. Epub 2021 Apr 2. J Med Genet. 2022. PMID: 33811133
9q Subtelomeric deletion syndrome with diaphragmatic hernia.
Klitten LL, Tommerup N, Hjalgrim H, Møller RS. Klitten LL, et al. Among authors: moller rs. Am J Med Genet A. 2009 May;149A(5):1086-8. doi: 10.1002/ajmg.a.32823. Am J Med Genet A. 2009. PMID: 19396830 No abstract available.
X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.
Møller RS, Jensen LR, Maas SM, Filmus J, Capurro M, Hansen C, Marcelis CL, Ravn K, Andrieux J, Mathieu M, Kirchhoff M, Rødningen OK, de Leeuw N, Yntema HG, Froyen G, Vandewalle J, Ballon K, Klopocki E, Joss S, Tolmie J, Knegt AC, Lund AM, Hjalgrim H, Kuss AW, Tommerup N, Ullmann R, de Brouwer AP, Strømme P, Kjaergaard S, Tümer Z, Kleefstra T. Møller RS, et al. Hum Genet. 2014 May;133(5):625-38. doi: 10.1007/s00439-013-1403-3. Epub 2013 Dec 11. Hum Genet. 2014. PMID: 24326587
Mowat-Wilson syndrome: an underdiagnosed syndrome?
Engenheiro E, Møller RS, Pinto M, Soares G, Nikanorova M, Carreira IM, Ullmann R, Tommerup N, Tümer Z. Engenheiro E, et al. Among authors: moller rs. Clin Genet. 2008 Jun;73(6):579-84. doi: 10.1111/j.1399-0004.2008.00997.x. Epub 2008 Apr 28. Clin Genet. 2008. PMID: 18445050
Clinician's guide to genes associated with Rett-like phenotypes-Investigation of a Danish cohort and review of the literature.
Schönewolf-Greulich B, Bisgaard AM, Møller RS, Dunø M, Brøndum-Nielsen K, Kaur S, Van Bergen NJ, Lunke S, Eggers S, Jespersgaard C, Christodoulou J, Tümer Z. Schönewolf-Greulich B, et al. Among authors: moller rs. Clin Genet. 2019 Feb;95(2):221-230. doi: 10.1111/cge.13153. Epub 2018 Jan 25. Clin Genet. 2019. PMID: 29023665 Review.
290 results