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Gmnc Is a Master Regulator of the Multiciliated Cell Differentiation Program.
Zhou F, Narasimhan V, Shboul M, Chong YL, Reversade B, Roy S. Zhou F, et al. Curr Biol. 2015 Dec 21;25(24):3267-73. doi: 10.1016/j.cub.2015.10.062. Curr Biol. 2015. PMID: 26778655
Gmnc Is a Master Regulator of the Multiciliated Cell Differentiation Program.
Zhou F, Narasimhan V, Shboul M, Chong YL, Reversade B, Roy S. Zhou F, et al. Curr Biol. 2017 Jan 23;27(2):305-307. doi: 10.1016/j.cub.2016.12.051. Curr Biol. 2017. PMID: 28118582 No abstract available.
Arthrogryposis is a descriptive term, not a specific disease entity: escobar syndrome is an Example.
Al Kaissi A, Ryabykh S, Ochirova P, Bouchoucha S, Kenis V, Shboul M, Ganger R, Grill F, Kircher SG. Al Kaissi A, et al. Among authors: shboul m. Minerva Pediatr. 2020 Jun 12. doi: 10.23736/S0026-4946.20.05796-5. Online ahead of print. Minerva Pediatr. 2020. PMID: 32536119
Clinical and Genetic Heterogeneity in Six Tunisian Families With Horizontal Gaze Palsy With Progressive Scoliosis: A Retrospective Study of 13 Cases.
Bouchoucha S, Chikhaoui A, Najjar D, Dallali H, Khammessi M, Abdelhak S, Nessibe N, Shboul M, Kircher SG, Al Kaissi A, Yacoub-Youssef H. Bouchoucha S, et al. Among authors: shboul m. Front Pediatr. 2020 Apr 16;8:172. doi: 10.3389/fped.2020.00172. eCollection 2020. Front Pediatr. 2020. PMID: 32373565 Free PMC article.
Tomographic Study of the Malformation Complex in Correlation With the Genotype in Patients With Robinow Syndrome: Review Article.
Kaissi AA, Kenis V, Shboul M, Grill F, Ganger R, Kircher SG. Kaissi AA, et al. Among authors: shboul m. J Investig Med High Impact Case Rep. 2020 Jan-Dec;8:2324709620911771. doi: 10.1177/2324709620911771. J Investig Med High Impact Case Rep. 2020. PMID: 32172608 Free PMC article.
Congenital insensitivity to pain with anhidrosis syndrome: A series from Jordan.
Masri A, Shboul M, Khasawneh A, Jadallah R, ALmustafa A, Escande-Beillard N, Hamamy H, Bakri F, Reversade B. Masri A, et al. Among authors: shboul m. Clin Neurol Neurosurg. 2020 Feb;189:105636. doi: 10.1016/j.clineuro.2019.105636. Epub 2019 Dec 9. Clin Neurol Neurosurg. 2020. PMID: 31841741
Skeletal phenotype/genotype in progressive pseudorheumatoid chondrodysplasia.
Al Kaissi A, Kenis V, Jemaa LB, Sassi H, Shboul M, Grill F, Ganger R, Kircher SG. Al Kaissi A, et al. Among authors: shboul m. Clin Rheumatol. 2020 Feb;39(2):553-560. doi: 10.1007/s10067-019-04783-z. Epub 2019 Oct 18. Clin Rheumatol. 2020. PMID: 31628567
Recessive mutation in GALNT3 causes hyperphosphatemic familial tumoral calcinosis associated with chronic recurrent multifocal osteomyelitis.
Albaramki J, Dmour H, Shboul M, Bonnard C, Venkatesh B, Odeh R. Albaramki J, et al. Among authors: shboul m. Turk J Pediatr. 2019;61(1):130-133. doi: 10.24953/turkjped.2019.01.022. Turk J Pediatr. 2019. PMID: 31559735 Free article.
Leri-Weill Dyschondrosteosis Syndrome: Analysis via 3DCT Scan.
Al Kaissi A, Shboul M, Kenis V, Grill F, Ganger R, Kircher SG. Al Kaissi A, et al. Among authors: shboul m. Medicines (Basel). 2019 May 29;6(2):60. doi: 10.3390/medicines6020060. Medicines (Basel). 2019. PMID: 31146331 Free PMC article.
Massive Axial and Appendicular Skeletal Deformities in Connection with Gorham-Stout Syndrome.
Kaissi AA, Bouchoucha S, Shboul M, Kenis V, Grill F, Ganger R, Kircher SG. Kaissi AA, et al. Among authors: shboul m. Medicines (Basel). 2019 May 7;6(2):54. doi: 10.3390/medicines6020054. Medicines (Basel). 2019. PMID: 31067823 Free PMC article.
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