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

Year Number of Results
2004 1
2005 1
2006 1
2007 2
2008 2
2009 2
2012 4
2013 6
2014 7
2015 10
2016 12
2017 8
2018 9
2019 6
2020 7
2021 13
2022 10
2023 16
2024 4

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92 results

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Page 1
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV, Good JM, Kalser J, Kloeckner C, Lachmeijer G, Macchiaiolo M, Nicita F, Odent S, O'Heir E, Ortiz-Gonzalez X, Pacio-Miguez M, Palomares-Bralo M, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, Roulet-Perez E, Santani A, Santos-Simarro F, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, van Jaabrsveld RH, Vincent M, Wang HG, Zacher P; Undiagnosed Diseases Network; Rush E, Pitt GS, Au PYB, Shashi V. Rodan LH, et al. Among authors: atallah i. Genet Med. 2021 Oct;23(10):1922-1932. doi: 10.1038/s41436-021-01232-8. Epub 2021 Jun 23. Genet Med. 2021. PMID: 34163037 Free PMC article.
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Galosi S, Edani BH, Martinelli S, Hansikova H, Eklund EA, Caputi C, Masuelli L, Corsten-Janssen N, Srour M, Oegema R, Bosch DGM, Ellis CA, Amlie-Wolf L, Accogli A, Atallah I, Averdunk L, Barañano KW, Bei R, Bagnasco I, Brusco A, Demarest S, Alaix AS, Di Bonaventura C, Distelmaier F, Elmslie F, Gan-Or Z, Good JM, Gripp K, Kamsteeg EJ, Macnamara E, Marcelis C, Mercier N, Peeden J, Pizzi S, Pannone L, Shinawi M, Toro C, Verbeek NE, Venkateswaran S, Wheeler PG, Zdrazilova L, Zhang R, Zorzi G, Guerrini R, Sessa WC, Lefeber DJ, Tartaglia M, Hamdan FF, Grabińska KA, Leuzzi V. Galosi S, et al. Among authors: atallah i. Brain. 2022 Mar 29;145(1):208-223. doi: 10.1093/brain/awab299. Brain. 2022. PMID: 34382076 Free PMC article.
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.
Aerden M, Denommé-Pichon AS, Bonneau D, Bruel AL, Delanne J, Gérard B, Mazel B, Philippe C, Pinson L, Prouteau C, Putoux A, Tran Mau-Them F, Viora-Dupont É, Vitobello A, Ziegler A, Piton A, Isidor B, Francannet C, Maillard PY, Julia S, Philippe A, Schaefer E, Koene S, Ruivenkamp C, Hoffer M, Legius E, Theunis M, Keren B, Buratti J, Charles P, Courtin T, Misra-Isrie M, van Haelst M, Waisfisz Q, Wieczorek D, Schmetz A, Herget T, Kortüm F, Lisfeld J, Debray FG, Bramswig NC, Atallah I, Fodstad H, Jouret G, Almoguera B, Tahsin-Swafiri S, Santos-Simarro F, Palomares-Bralo M, López-González V, Kibaek M, Tørring PM, Renieri A, Bruno LP, Õunap K, Wojcik M, Hsieh TC, Krawitz P, Van Esch H. Aerden M, et al. Among authors: atallah i. Eur J Hum Genet. 2023 Apr;31(4):461-468. doi: 10.1038/s41431-023-01307-x. Epub 2023 Feb 7. Eur J Hum Genet. 2023. PMID: 36747006 Free PMC article.
Parotid swelling.
Righini CA, Baguant A, Atallah I. Righini CA, et al. Among authors: atallah i. Eur Ann Otorhinolaryngol Head Neck Dis. 2017 Sep;134(4):281-282. doi: 10.1016/j.anorl.2017.03.004. Epub 2017 Apr 5. Eur Ann Otorhinolaryngol Head Neck Dis. 2017. PMID: 28395960 Free article. No abstract available.
Sinonasal tumour.
Righini CA, D'Alnoncourt S, Atallah I. Righini CA, et al. Among authors: atallah i. Eur Ann Otorhinolaryngol Head Neck Dis. 2015 Sep;132(4):235-6. doi: 10.1016/j.anorl.2015.05.008. Epub 2015 Jun 6. Eur Ann Otorhinolaryngol Head Neck Dis. 2015. PMID: 26055451 Free article. No abstract available.
A nasolabial swelling.
Righini CA, Baguant A, Atallah I. Righini CA, et al. Among authors: atallah i. Eur Ann Otorhinolaryngol Head Neck Dis. 2017 Apr;134(2):137-138. doi: 10.1016/j.anorl.2016.11.011. Epub 2016 Dec 16. Eur Ann Otorhinolaryngol Head Neck Dis. 2017. PMID: 27993574 Free article. No abstract available.
Suspension laryngoscopy-assisted percutaneous dilatational tracheostomy.
Moulin M, Castellanos PF, Atallah I. Moulin M, et al. Among authors: atallah i. Eur Ann Otorhinolaryngol Head Neck Dis. 2021 Jan;138(1):53-55. doi: 10.1016/j.anorl.2020.06.024. Epub 2020 Jul 7. Eur Ann Otorhinolaryngol Head Neck Dis. 2021. PMID: 32651083 Free article.
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.
Oppermann H, Marcos-Grañeda E, Weiss LA, Gurnett CA, Jelsig AM, Vineke SH, Isidor B, Mercier S, Magnussen K, Zacher P, Hashim M, Pagnamenta AT, Race S, Srivastava S, Frazier Z, Maiwald R, Pergande M, Milani D, Rinelli M, Levy J, Krey I, Fontana P, Lonardo F, Riley S, Kretzer J, Rankin J, Reis LM, Semina EV, Reuter MS, Scherer SW, Iascone M, Weis D, Fagerberg CR, Brasch-Andersen C, Hansen LK, Kuechler A, Noble N, Gardham A, Tenney J, Rathore G, Beck-Woedl S, Haack TB, Pavlidou DC, Atallah I, Vodopiutz J, Janecke AR, Hsieh TC, Lesmann H, Klinkhammer H, Krawitz PM, Lemke JR, Jamra RA, Nieto M, Tümer Z, Platzer K. Oppermann H, et al. Among authors: atallah i. Eur J Hum Genet. 2023 Nov;31(11):1251-1260. doi: 10.1038/s41431-023-01445-2. Epub 2023 Aug 30. Eur J Hum Genet. 2023. PMID: 37644171 Free PMC article.
[Constitutional diseases of bone: clinical flags].
Debrach AC, Brégou A, Gonzalez Rodriguez E, Pejin Z, Kumps C, Craig A, Pavlidou DC, Atallah I. Debrach AC, et al. Among authors: atallah i. Rev Med Suisse. 2023 Apr 19;19(823):766-769. doi: 10.53738/REVMED.2023.19.823.766. Rev Med Suisse. 2023. PMID: 37133958 French.
A cheek tumour.
Righini CA, Bally A, Atallah I. Righini CA, et al. Among authors: atallah i. Eur Ann Otorhinolaryngol Head Neck Dis. 2016 Sep;133(4):283-4. doi: 10.1016/j.anorl.2016.02.003. Epub 2016 Mar 17. Eur Ann Otorhinolaryngol Head Neck Dis. 2016. PMID: 26997569 Free article. No abstract available.
92 results