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The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification.
J Hum Genet. 2020 Nov;65(11):1003-1017. doi: 10.1038/s10038-020-0803-1. Epub 2020 Aug 12.
J Hum Genet. 2020.
PMID: 32788638
Free PMC article.
PUF60-SCRIB fusion transcript in a patient with 8q24.3 microdeletion and atypical Verheij syndrome.
Abdin D, Rump A, Tzschach A, Sarnow K, Schröck E, Hackmann K, Di Donato N.
Abdin D, et al.
Eur J Med Genet. 2019 Dec;62(12):103587. doi: 10.1016/j.ejmg.2018.11.021. Epub 2018 Nov 23.
Eur J Med Genet. 2019.
PMID: 30472487
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Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.
Lee S, Chen DY, Zaki MS, Maroofian R, Houlden H, Di Donato N, Abdin D, Morsy H, Mirzaa GM, Dobyns WB, McEvoy-Venneri J, Stanley V, James KN, Mancini GMS, Schot R, Kalayci T, Altunoglu U, Karimiani EG, Brick L, Kozenko M, Jamshidi Y, Manzini MC, Beiraghi Toosi M, Gleeson JG.
Lee S, et al. Among authors: abdin d.
Am J Hum Genet. 2019 Oct 3;105(4):844-853. doi: 10.1016/j.ajhg.2019.08.013.
Am J Hum Genet. 2019.
PMID: 31585108
Free PMC article.
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Parental mosaicism in epilepsies due to alleged de novo variants.
Møller RS, Liebmann N, Larsen LHG, Stiller M, Hentschel J, Kako N, Abdin D, Di Donato N, Pal DK, Zacher P, Syrbe S, Dahl HA, Lemke JR.
Møller RS, et al. Among authors: abdin d.
Epilepsia. 2019 Jun;60(6):e63-e66. doi: 10.1111/epi.15187. Epub 2019 May 11.
Epilepsia. 2019.
PMID: 31077350
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Dermatological signs lead to discovery of mosaic ACTB variants in segmental odontomaxillary dysplasia.
Polubothu S, Abdin D, Barysch M, Thomas A, Bulstrode N, Evans R, Solman L, Obwegeser J, Hennekam RC, Weibel L, Calder A, Di Donato N, Kinsler VA.
Polubothu S, et al. Among authors: abdin d.
Br J Dermatol. 2020 Dec;183(6):1128-1130. doi: 10.1111/bjd.19339. Epub 2020 Sep 1.
Br J Dermatol. 2020.
PMID: 32585735
No abstract available.
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