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Year Number of Results
1978 1
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2009 1
2011 1
2012 3
2013 3
2014 3
2016 3
2017 3
2018 5
2019 3
2020 1
2021 1
2022 1
2023 1
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27 results

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Page 1
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F. Braun DA, et al. Among authors: waxler jl. Nat Genet. 2017 Oct;49(10):1529-1538. doi: 10.1038/ng.3933. Epub 2017 Aug 14. Nat Genet. 2017. PMID: 28805828 Free PMC article.
Repetitive Thoughts and Repetitive Behaviors in Williams Syndrome.
Huston JC, Thom RP, Ravichandran CT, Mullett JE, Moran C, Waxler JL, Pober BR, McDougle CJ. Huston JC, et al. Among authors: waxler jl. J Autism Dev Disord. 2022 Feb;52(2):852-862. doi: 10.1007/s10803-021-04979-w. Epub 2021 Apr 10. J Autism Dev Disord. 2022. PMID: 33837487
Skin findings in Williams syndrome.
Kozel BA, Bayliss SJ, Berk DR, Waxler JL, Knutsen RH, Danback JR, Pober BR. Kozel BA, et al. Among authors: waxler jl. Am J Med Genet A. 2014 Sep;164A(9):2217-25. doi: 10.1002/ajmg.a.36628. Epub 2014 Jun 11. Am J Med Genet A. 2014. PMID: 24920525 Free PMC article.
Hypercalcemia in Patients with Williams-Beuren Syndrome.
Sindhar S, Lugo M, Levin MD, Danback JR, Brink BD, Yu E, Dietzen DJ, Clark AL, Purgert CA, Waxler JL, Elder RW, Pober BR, Kozel BA. Sindhar S, et al. Among authors: waxler jl. J Pediatr. 2016 Nov;178:254-260.e4. doi: 10.1016/j.jpeds.2016.08.027. Epub 2016 Aug 26. J Pediatr. 2016. PMID: 27574996 Free PMC article.
Attention Bias to Emotional Faces Varies by IQ and Anxiety in Williams Syndrome.
McGrath LM, Oates JM, Dai YG, Dodd HF, Waxler J, Clements CC, Weill S, Hoffnagle A, Anderson E, MacRae R, Mullett J, McDougle CJ, Pober BR, Smoller JW. McGrath LM, et al. Among authors: waxler j. J Autism Dev Disord. 2016 Jun;46(6):2174-2185. doi: 10.1007/s10803-016-2748-y. J Autism Dev Disord. 2016. PMID: 26886469 Free PMC article.
A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.
Mucha BE, Banka S, Ajeawung NF, Molidperee S, Chen GG, Koenig MK, Adejumo RB, Till M, Harbord M, Perrier R, Lemyre E, Boucher RM, Skotko BG, Waxler JL, Thomas MA, Hodge JC, Gecz J, Nicholl J, McGregor L, Linden T, Sisodiya SM, Sanlaville D, Cheung SW, Ernst C, Campeau PM. Mucha BE, et al. Among authors: waxler jl. Genet Med. 2019 May;21(5):1058-1064. doi: 10.1038/s41436-018-0290-3. Epub 2018 Sep 24. Genet Med. 2019. PMID: 30245510 Free article.
De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.
Berko ER, Cho MT, Eng C, Shao Y, Sweetser DA, Waxler J, Robin NH, Brewer F, Donkervoort S, Mohassel P, Bönnemann CG, Bialer M, Moore C, Wolfe LA, Tifft CJ, Shen Y, Retterer K, Millan F, Chung WK. Berko ER, et al. Among authors: waxler j. J Med Genet. 2017 Feb;54(2):84-86. doi: 10.1136/jmedgenet-2016-103943. Epub 2016 Jul 7. J Med Genet. 2017. PMID: 27389779 Free PMC article.
27 results