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Year Number of Results
2008 1
2011 1
2012 3
2013 1
2014 6
2015 3
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2017 6
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2019 1
2020 2
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2022 5
2023 4
2024 5

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Page 1
Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia.
Iturrate A, Rivera-Barahona A, Flores CL, Otaify GA, Elhossini R, Perez-Sanz ML, Nevado J, Tenorio-Castano J, Triviño JC, Garcia-Gonzalo FR, Piceci-Sparascio F, De Luca A, Martínez L, Kalaycı T, Lapunzina P, Altunoglu U, Aglan M, Abdalla E, Ruiz-Perez VL. Iturrate A, et al. Among authors: abdalla e. Am J Hum Genet. 2022 Oct 6;109(10):1828-1849. doi: 10.1016/j.ajhg.2022.08.009. Epub 2022 Sep 8. Am J Hum Genet. 2022. PMID: 36084634 Free PMC article.
The morbid genome of ciliopathies: an update.
Shamseldin HE, Shaheen R, Ewida N, Bubshait DK, Alkuraya H, Almardawi E, Howaidi A, Sabr Y, Abdalla EM, Alfaifi AY, Mohammed Alghamdi J, Alsagheir A, Alfares A, Morsy H, Hussein MH, Al-Muhaizea MA, Shagrani M, Al Sabban E, Salih MA, Meriki N, Khan R, Almugbel M, Qari A, Tulba M, Mahnashi M, Alhazmi K, Alsalamah AK, Nowilaty SR, Alhashem A, Hashem M, Abdulwahab F, Ibrahim N, Alshidi T, AlObeid E, Alenazi MM, Alzaidan H, Rahbeeni Z, Al-Owain M, Sogaty S, Zain Seidahmed M, Alkuraya FS. Shamseldin HE, et al. Among authors: abdalla em. Genet Med. 2022 Apr;24(4):966. doi: 10.1016/j.gim.2022.01.019. Genet Med. 2022. PMID: 35394428 Free article. No abstract available.
The morbid genome of ciliopathies: an update.
Shamseldin HE, Shaheen R, Ewida N, Bubshait DK, Alkuraya H, Almardawi E, Howaidi A, Sabr Y, Abdalla EM, Alfaifi AY, Alghamdi JM, Alsagheir A, Alfares A, Morsy H, Hussein MH, Al-Muhaizea MA, Shagrani M, Al Sabban E, Salih MA, Meriki N, Khan R, Almugbel M, Qari A, Tulba M, Mahnashi M, Alhazmi K, Alsalamah AK, Nowilaty SR, Alhashem A, Hashem M, Abdulwahab F, Ibrahim N, Alshidi T, AlObeid E, Alenazi MM, Alzaidan H, Rahbeeni Z, Al-Owain M, Sogaty S, Seidahmed MZ, Alkuraya FS. Shamseldin HE, et al. Among authors: abdalla em. Genet Med. 2020 Jun;22(6):1051-1060. doi: 10.1038/s41436-020-0761-1. Epub 2020 Feb 14. Genet Med. 2020. PMID: 32055034 Free article.
GestaltMatcher Database - A global reference for the facial phenotypic variability of rare human diseases.
Lesmann H, Hustinx A, Moosa S, Marchi E, Caro P, Abdelrazek IM, Pantel JT, Klinkhammer H, Hagen MT, Kamphans T, Meiswinkel W, Li JM, Javanmardi B, Knaus A, Uwineza A, Knopp C, Tkemaladze T, Elbracht M, Mattern L, Jamra RA, Velmans C, Strehlow V, Goel H, Nunes BC, Vilella T, Pinheiro IF, Kim CA, Melaragno MI, Barakat TS, Nabil A, Suh J, Averdunk L, Ekure E, Graziano C, Phowthongkum P, Güzel N, Haack TB, Brunet T, Rudnik-Schöneborn S, Platzer K, Borovikov A, Schnabel F, Heuft L, Herrmann V, Martinez-Monseny AF, Höller M, Alaaeldin K, Jezela-Stanek A, Mohamed A, Lasa-Aranzasti A, Sayer JA, Hu P, Ledgister Hanchard SE, Elmakkawy G, Safwat S, Ebstein F, Krüger E, Küry S, Arlt A, Marbach F, Netzer C, Kaptain S, Weiland H, Li D, Dupuis L, Mendoza-Londono R, Houge SD, Weis D, Chung BH, Mak CCY, Devriendt K, Gripp KW, Mücke M, Verloes A, Schaaf CP, Nellåker C, Solomon BD, Waikel RL, Nöthen MM, Abdalla E, Lyon GJ, Krawitz PM, Hsieh TC. Lesmann H, et al. Among authors: abdalla e. medRxiv [Preprint]. 2024 Mar 8:2023.06.06.23290887. doi: 10.1101/2023.06.06.23290887. medRxiv. 2024. PMID: 37503210 Free PMC article. Preprint.
41 results