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

Year Number of Results
2004 1
2006 2
2007 2
2008 1
2009 2
2010 2
2011 4
2012 6
2013 5
2014 3
2015 3
2016 4
2017 8
2018 1
2019 1
2020 3
2021 2
2023 2
2024 0

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46 results

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Page 1
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.
Van Dijck A, Vulto-van Silfhout AT, Cappuyns E, van der Werf IM, Mancini GM, Tzschach A, Bernier R, Gozes I, Eichler EE, Romano C, Lindstrand A, Nordgren A; ADNP Consortium; Kvarnung M, Kleefstra T, de Vries BBA, Küry S, Rosenfeld JA, Meuwissen ME, Vandeweyer G, Kooy RF. Van Dijck A, et al. Biol Psychiatry. 2019 Feb 15;85(4):287-297. doi: 10.1016/j.biopsych.2018.02.1173. Epub 2018 Mar 15. Biol Psychiatry. 2019. PMID: 29724491 Free PMC article.
Rubinstein-Taybi syndrome in diverse populations.
Tekendo-Ngongang C, Owosela B, Fleischer N, Addissie YA, Malonga B, Badoe E, Gupta N, Moresco A, Huckstadt V, Ashaat EA, Hussen DF, Luk HM, Lo IFM, Hon-Yin Chung B, Fung JLF, Moretti-Ferreira D, Batista LC, Lotz-Esquivel S, Saborio-Rocafort M, Badilla-Porras R, Penon Portmann M, Jones KL, Abdul-Rahman OA, Uwineza A, Prijoles EJ, Ifeorah IK, Llamos Paneque A, Sirisena ND, Dowsett L, Lee S, Cappuccio G, Kitchin CS, Diaz-Kuan A, Thong MK, Obregon MG, Mutesa L, Dissanayake VHW, El Ruby MO, Brunetti-Pierri N, Ekure EN, Stevenson RE, Muenke M, Kruszka P. Tekendo-Ngongang C, et al. Am J Med Genet A. 2020 Dec;182(12):2939-2950. doi: 10.1002/ajmg.a.61888. Epub 2020 Sep 27. Am J Med Genet A. 2020. PMID: 32985117
Ocular measurements in fetal alcohol spectrum disorders.
Gomez DA, May PA, Tabachnick BG, Hasken JM, Lyden ER, Kalberg WO, Hoyme HE, Manning MA, Adam MP, Robinson LK, Jones KL, Buckley D, Abdul-Rahman OA. Gomez DA, et al. Am J Med Genet A. 2020 Oct;182(10):2243-2252. doi: 10.1002/ajmg.a.61759. Epub 2020 Jul 17. Am J Med Genet A. 2020. PMID: 32677343
Down syndrome in diverse populations.
Kruszka P, Porras AR, Sobering AK, Ikolo FA, La Qua S, Shotelersuk V, Chung BH, Mok GT, Uwineza A, Mutesa L, Moresco A, Obregon MG, Sokunbi OJ, Kalu N, Joseph DA, Ikebudu D, Ugwu CE, Okoromah CA, Addissie YA, Pardo KL, Brough JJ, Lee NC, Girisha KM, Patil SJ, Ng IS, Min BC, Jamuar SS, Tibrewal S, Wallang B, Ganesh S, Sirisena ND, Dissanayake VH, Paththinige CS, Prabodha LB, Richieri-Costa A, Muthukumarasamy P, Thong MK, Jones KL, Abdul-Rahman OA, Ekure EN, Adeyemo AA, Summar M, Linguraru MG, Muenke M. Kruszka P, et al. Am J Med Genet A. 2017 Jan;173(1):42-53. doi: 10.1002/ajmg.a.38043. Am J Med Genet A. 2017. PMID: 27991738
Noonan syndrome in diverse populations.
Kruszka P, Porras AR, Addissie YA, Moresco A, Medrano S, Mok GTK, Leung GKC, Tekendo-Ngongang C, Uwineza A, Thong MK, Muthukumarasamy P, Honey E, Ekure EN, Sokunbi OJ, Kalu N, Jones KL, Kaplan JD, Abdul-Rahman OA, Vincent LM, Love A, Belhassan K, Ouldim K, El Bouchikhi I, Shukla A, Girisha KM, Patil SJ, Sirisena ND, Dissanayake VHW, Paththinige CS, Mishra R, Klein-Zighelboim E, Gallardo Jugo BE, Chávez Pastor M, Abarca-Barriga HH, Skinner SA, Prijoles EJ, Badoe E, Gill AD, Shotelersuk V, Smpokou P, Kisling MS, Ferreira CR, Mutesa L, Megarbane A, Kline AD, Kimball A, Okello E, Lwabi P, Aliku T, Tenywa E, Boonchooduang N, Tanpaiboon P, Richieri-Costa A, Wonkam A, Chung BHY, Stevenson RE, Summar M, Mandal K, Phadke SR, Obregon MG, Linguraru MG, Muenke M. Kruszka P, et al. Am J Med Genet A. 2017 Sep;173(9):2323-2334. doi: 10.1002/ajmg.a.38362. Epub 2017 Jul 27. Am J Med Genet A. 2017. PMID: 28748642 Free PMC article.
22q11.2 deletion syndrome in diverse populations.
Kruszka P, Addissie YA, McGinn DE, Porras AR, Biggs E, Share M, Crowley TB, Chung BH, Mok GT, Mak CC, Muthukumarasamy P, Thong MK, Sirisena ND, Dissanayake VH, Paththinige CS, Prabodha LB, Mishra R, Shotelersuk V, Ekure EN, Sokunbi OJ, Kalu N, Ferreira CR, Duncan JM, Patil SJ, Jones KL, Kaplan JD, Abdul-Rahman OA, Uwineza A, Mutesa L, Moresco A, Obregon MG, Richieri-Costa A, Gil-da-Silva-Lopes VL, Adeyemo AA, Summar M, Zackai EH, McDonald-McGinn DM, Linguraru MG, Muenke M. Kruszka P, et al. Am J Med Genet A. 2017 Apr;173(4):879-888. doi: 10.1002/ajmg.a.38199. Am J Med Genet A. 2017. PMID: 28328118 Free PMC article.
Neuromotor synapses in Escobar syndrome.
Robinson KG, Viereck MJ, Margiotta MV, Gripp KW, Abdul-Rahman OA, Akins RE. Robinson KG, et al. Am J Med Genet A. 2013 Dec;161A(12):3042-8. doi: 10.1002/ajmg.a.36154. Epub 2013 Aug 16. Am J Med Genet A. 2013. PMID: 24038971 Free PMC article.
Nicolaides-Baraitser syndrome: Delineation of the phenotype.
Sousa SB, Abdul-Rahman OA, Bottani A, Cormier-Daire V, Fryer A, Gillessen-Kaesbach G, Horn D, Josifova D, Kuechler A, Lees M, MacDermot K, Magee A, Morice-Picard F, Rosser E, Sarkar A, Shannon N, Stolte-Dijkstra I, Verloes A, Wakeling E, Wilson L, Hennekam RC. Sousa SB, et al. Am J Med Genet A. 2009 Aug;149A(8):1628-40. doi: 10.1002/ajmg.a.32956. Am J Med Genet A. 2009. PMID: 19606471
46 results