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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1977 1
1978 1
1979 1
1982 1
1983 3
1984 2
1985 2
1986 1
1987 2
1988 2
1989 2
1993 1
1995 2
1997 1
1998 1
1999 3
2000 1
2003 1
2004 2
2005 2
2006 1
2009 3
2010 3
2011 3
2014 3
2015 1
2016 2
2017 3
2018 2
2020 3
2021 1
2022 0
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53 results
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Page 1
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
Dyment DA, O'Donnell-Luria A, Agrawal PB, Coban Akdemir Z, Aleck KA, Antaki D, Al Sharhan H, Au PB, Aydin H, Beggs AH, Bilguvar K, Boerwinkle E, Brand H, Brownstein CA, Buyske S, Chodirker B, Choi J, Chudley AE, Clericuzio CL, Cox GF, Curry C, de Boer E, de Vries BBA, Dunn K, Dutmer CM, England EM, Fahrner JA, Geckinli BB, Genetti CA, Gezdirici A, Gibson WT, Gleeson JG, Greenberg CR, Hall A, Hamosh A, Hartley T, Jhangiani SN, Karaca E, Kernohan K, Lauzon JL, Lewis MES, Lowry RB, López-Giráldez F, Matise TC, McEvoy-Venneri J, McInnes B, Mhanni A, Garcia Minaur S, Moilanen J, Nguyen A, Nowaczyk MJM, Posey JE, Õunap K, Pehlivan D, Pajusalu S, Penney LS, Poterba T, Prontera P, Doriqui MJR, Sawyer SL, Sobreira N, Stanley V, Torun D, Wargowski D, Witmer PD, Wong I, Xing J, Zaki MS, Zhang Y; Care4Rare Consortium; Centers for Mendelian Genomics, Boycott KM, Bamshad MJ, Nickerson DA, Blue EE, Innes AM. Dyment DA, et al. Among authors: aleck ka. Am J Med Genet A. 2021 Jan;185(1):119-133. doi: 10.1002/ajmg.a.61926. Epub 2020 Oct 24. Am J Med Genet A. 2021. PMID: 33098347 Free PMC article.
Familial porencephaly.
Berg RA, Aleck KA, Kaplan AM. Berg RA, et al. Among authors: aleck ka. Arch Neurol. 1983 Sep;40(9):567-9. doi: 10.1001/archneur.1983.04050080067013. Arch Neurol. 1983. PMID: 6615288
Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance.
Powis Z, Farwell Hagman KD, Mroske C, McWalter K, Cohen JS, Colombo R, Serretti A, Fatemi A, David KL, Reynolds J, Immken L, Nagakura H, Cunniff CM, Payne K, Barbaro-Dieber T, Gripp KW, Baker L, Stamper T, Aleck KA, Jordan ES, Hersh JH, Burton J, Wentzensen IM, Guillen Sacoto MJ, Willaert R, Cho MT, Petrik I, Huether R, Tang S. Powis Z, et al. Among authors: aleck ka. Clin Genet. 2018 Apr;93(4):752-761. doi: 10.1111/cge.13132. Epub 2018 Jan 7. Clin Genet. 2018. PMID: 28881385
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy.
Lee YR, Khan K, Armfield-Uhas K, Srikanth S, Thompson NA, Pardo M, Yu L, Norris JW, Peng Y, Gripp KW, Aleck KA, Li C, Spence E, Choi TI, Kwon SJ, Park HM, Yu D, Heo WD, Mooney MR, Baig SM, Wentzensen IM, Telegrafi A, McWalter K, Moreland T, Roadhouse C, Ramsey K, Lyons MJ, Skinner C, Alexov E, Katsanis N, Stevenson RE, Choudhary JS, Adams DJ, Kim CH, Davis EE, Schwartz CE. Lee YR, et al. Among authors: aleck ka. Nat Commun. 2020 Jul 23;11(1):3698. doi: 10.1038/s41467-020-17452-6. Nat Commun. 2020. PMID: 32703943 Free PMC article.
Genetic-metabolic considerations in the sick neonate.
Aleck KA, Shapiro LJ. Aleck KA, et al. Pediatr Clin North Am. 1978 Aug;25(3):431-51. doi: 10.1016/s0031-3955(16)33599-4. Pediatr Clin North Am. 1978. PMID: 358106 Review. No abstract available.
Benign clinical presentation of 3-methylcrotonylglycinuria.
Pearson MA, Aleck KA, Heidenreich RA. Pearson MA, et al. Among authors: aleck ka. J Inherit Metab Dis. 1995;18(5):640-1. doi: 10.1007/BF02436012. J Inherit Metab Dis. 1995. PMID: 8598648 No abstract available.
Macrocephaly with hamartomas: Bannayan-Zonana syndrome.
Miles JH, Zonana J, Mcfarlane J, Aleck KA, Bawle E. Miles JH, et al. Among authors: aleck ka. Am J Med Genet. 1984 Oct;19(2):225-34. doi: 10.1002/ajmg.1320190204. Am J Med Genet. 1984. PMID: 6507473
53 results