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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2017 | 5 |
2022 | 1 |
2024 | 0 |
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6 results
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Page 1
Association of ultra-rare coding variants with genetic generalized epilepsy: A case-control whole exome sequencing study.
Epilepsia. 2022 Mar;63(3):723-735. doi: 10.1111/epi.17166. Epub 2022 Jan 15.
Epilepsia. 2022.
PMID: 35032048
Free PMC article.
Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.
Mori M, Haskell G, Kazi Z, Zhu X, DeArmey SM, Goldstein JL, Bali D, Rehder C, Cirulli ET, Kishnani PS.
Mori M, et al.
Mol Genet Metab. 2017 Dec;122(4):189-197. doi: 10.1016/j.ymgme.2017.10.008. Epub 2017 Oct 17.
Mol Genet Metab. 2017.
PMID: 29122469
Free PMC article.
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Somatic uniparental disomy of Chromosome 16p in hemimegalencephaly.
Griffin NG, Cronin KD, Walley NM, Hulette CM, Grant GA, Mikati MA, LaBreche HG, Rehder CW, Allen AS, Crino PB, Heinzen EL.
Griffin NG, et al.
Cold Spring Harb Mol Case Stud. 2017 Sep 1;3(5):a001735. doi: 10.1101/mcs.a001735. Print 2017 Sep.
Cold Spring Harb Mol Case Stud. 2017.
PMID: 28864461
Free PMC article.
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Annotating pathogenic non-coding variants in genic regions.
Gelfman S, Wang Q, McSweeney KM, Ren Z, La Carpia F, Halvorsen M, Schoch K, Ratzon F, Heinzen EL, Boland MJ, Petrovski S, Goldstein DB.
Gelfman S, et al.
Nat Commun. 2017 Aug 9;8(1):236. doi: 10.1038/s41467-017-00141-2.
Nat Commun. 2017.
PMID: 28794409
Free PMC article.
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Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data.
Epi4K Consortium; EuroEPINOMICS-RES Consortium; Epilepsy Phenome Genome Project.
Epi4K Consortium, et al.
Eur J Hum Genet. 2017 Jun;25(7):894-899. doi: 10.1038/ejhg.2017.61. Epub 2017 May 17.
Eur J Hum Genet. 2017.
PMID: 28513609
Free PMC article.
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New diagnosis of atypical ataxia-telangiectasia in a 17-year-old boy with T-cell acute lymphoblastic leukemia and a novel ATM mutation.
Roohi J, Crowe J, Loredan D, Anyane-Yeboa K, Mansukhani MM, Omesi L, Levine J, Revah Politi A, Zha S.
Roohi J, et al.
J Hum Genet. 2017 Apr;62(5):581-584. doi: 10.1038/jhg.2017.6. Epub 2017 Jan 26.
J Hum Genet. 2017.
PMID: 28123174
Free PMC article.
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