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Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
J Med Genet. 2024 Mar 26:jmg-2023-109438. doi: 10.1136/jmg-2023-109438. Online ahead of print.
J Med Genet. 2024.
PMID: 38471765
Review.
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.
Kerkhof J, Rastin C, Levy MA, Relator R, McConkey H, Demain L, Dominguez-Garrido E, Kaat LD, Houge SD, DuPont BR, Fee T, Fletcher RS, Gokhale D, Haukanes BI, Henneman P, Hilton S, Hilton BA, Jenkinson S, Lee JA, Louie RJ, Motazacker MM, Rzasa J, Stevenson RE, Plomp A, van der Laan L, van der Smagt J, Walden KK, Banka S, Mannens M, Skinner SA, Friez MJ, Campbell C, Tedder ML, Alders M, Sadikovic B.
Kerkhof J, et al. Among authors: houge sd.
Genet Med. 2024 May;26(5):101075. doi: 10.1016/j.gim.2024.101075. Epub 2024 Jan 18.
Genet Med. 2024.
PMID: 38251460
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Personalised medicine for developmental disorders.
Bakke KA, Helverschou SB, Skrivarhaug T, Houge SD, Stray-Pedersen A.
Bakke KA, et al. Among authors: houge sd.
Tidsskr Nor Laegeforen. 2023 Sep 14;143(13). doi: 10.4045/tidsskr.23.0351. Print 2023 Sep 26.
Tidsskr Nor Laegeforen. 2023.
PMID: 37753748
Free article.
English, Norwegian.
No abstract available.
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GestaltMatcher Database - A global reference for the facial phenotypic variability of rare human diseases.
Lesmann H, Hustinx A, Moosa S, Marchi E, Caro P, Abdelrazek IM, Pantel JT, Klinkhammer H, Hagen MT, Kamphans T, Meiswinkel W, Li JM, Javanmardi B, Knaus A, Uwineza A, Knopp C, Tkemaladze T, Elbracht M, Mattern L, Jamra RA, Velmans C, Strehlow V, Goel H, Nunes BC, Vilella T, Pinheiro IF, Kim CA, Melaragno MI, Barakat TS, Nabil A, Suh J, Averdunk L, Ekure E, Graziano C, Phowthongkum P, Güzel N, Haack TB, Brunet T, Rudnik-Schöneborn S, Platzer K, Borovikov A, Schnabel F, Heuft L, Herrmann V, Martinez-Monseny AF, Höller M, Alaaeldin K, Jezela-Stanek A, Mohamed A, Lasa-Aranzasti A, Sayer JA, Hu P, Ledgister Hanchard SE, Elmakkawy G, Safwat S, Ebstein F, Krüger E, Küry S, Arlt A, Marbach F, Netzer C, Kaptain S, Weiland H, Li D, Dupuis L, Mendoza-Londono R, Houge SD, Weis D, Chung BH, Mak CCY, Devriendt K, Gripp KW, Mücke M, Verloes A, Schaaf CP, Nellåker C, Solomon BD, Waikel RL, Nöthen MM, Abdalla E, Lyon GJ, Krawitz PM, Hsieh TC.
Lesmann H, et al. Among authors: houge sd.
medRxiv [Preprint]. 2024 Mar 8:2023.06.06.23290887. doi: 10.1101/2023.06.06.23290887.
medRxiv. 2024.
PMID: 37503210
Free PMC article.
Preprint.
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The Role of the European Society of Human Genetics in Delivering Genomic Education.
Tobias ES, Avram E, Calapod P, Cordier C, den Dunnen JT, Ding C, Dolzan V, Houge SD, Lynch SA, O'Byrne J, Patsalis P, Prokopenko I, Soares CA, Tobias AP, Newman WG.
Tobias ES, et al. Among authors: houge sd.
Front Genet. 2021 Sep 3;12:693952. doi: 10.3389/fgene.2021.693952. eCollection 2021.
Front Genet. 2021.
PMID: 34539735
Free PMC article.
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