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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2019 | 3 |
2021 | 1 |
2024 | 0 |
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Page 1
Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant.
Am J Med Genet A. 2021 Aug;185(8):2445-2454. doi: 10.1002/ajmg.a.62350. Epub 2021 May 25.
Am J Med Genet A. 2021.
PMID: 34032352
Review.
De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability.
Nicola P, Blackburn PR, Rasmussen KJ, Bertsch NL, Klee EW, Hasadsri L, Pichurin PN, Rankin J, Raymond FL; DDD Study; Clayton-Smith J.
Nicola P, et al.
Am J Med Genet A. 2019 Apr;179(4):570-578. doi: 10.1002/ajmg.a.61061. Epub 2019 Feb 7.
Am J Med Genet A. 2019.
PMID: 30734472
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Biallelic human ITCH variants causing a multisystem disease with dysmorphic features: A second report.
Brittain HK, Feary J, Rosenthal M, Spoudeas H; Deciphering Developmental Disorders (DDD) Study; Wilson LC.
Brittain HK, et al.
Am J Med Genet A. 2019 Jul;179(7):1346-1350. doi: 10.1002/ajmg.a.61169. Epub 2019 May 15.
Am J Med Genet A. 2019.
PMID: 31091003
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A maternally inherited frameshift CDKL5 variant in a male with global developmental delay and late-onset generalized epilepsy.
Fraser H, Goldman A, Wright R; Deciphering Developmental Disorders Study; Banka S.
Fraser H, et al.
Am J Med Genet A. 2019 Mar;179(3):507-511. doi: 10.1002/ajmg.a.40661. Epub 2019 Jan 9.
Am J Med Genet A. 2019.
PMID: 30624022
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