Shboul M - Search Results

1

Identification of a novel variant of SCARF2 in a Jordanian family with a van den Ende-Gupta Syndrome and literature review.

Odeh O, Barqawi T, Rashid H, Almashhdi S, Shboul M. Odeh O, et al. Among authors: shboul m. Clin Dysmorphol. 2022 Jul 1;31(3):157-161. doi: 10.1097/MCD.0000000000000415. Epub 2022 Mar 7. Clin Dysmorphol. 2022. PMID: 35256560 Review. No abstract available.

2

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. Review.

3

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

4

Novel frame shift mutation in ERCC6 leads to a severe form of Cockayne syndrome with postnatal growth failure and early death: A case report and brief literature review.

Kou Y, Shboul M, Wang Z, Shersheer Q, Lyu Z, Liu P, Zhao X, Tian J. Kou Y, et al. Among authors: shboul m. Medicine (Baltimore). 2018 Aug;97(33):e11636. doi: 10.1097/MD.0000000000011636. Medicine (Baltimore). 2018. PMID: 30113454 Free PMC article. Review.

5

A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability.

Chia PH, Zhong FL, Niwa S, Bonnard C, Utami KH, Zeng R, Lee H, Eskin A, Nelson SF, Xie WH, Al-Tawalbeh S, El-Khateeb M, Shboul M, Pouladi MA, Al-Raqad M, Reversade B. Chia PH, et al. Among authors: shboul m. Elife. 2018 May 22;7:e32451. doi: 10.7554/eLife.32451. Elife. 2018. PMID: 29784083 Free PMC article.

6

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

7

Loss of the scavenger mRNA decapping enzyme DCPS causes syndromic intellectual disability with neuromuscular defects.

Ng CK, Shboul M, Taverniti V, Bonnard C, Lee H, Eskin A, Nelson SF, Al-Raqad M, Altawalbeh S, Séraphin B, Reversade B. Ng CK, et al. Among authors: shboul m. Hum Mol Genet. 2015 Jun 1;24(11):3163-71. doi: 10.1093/hmg/ddv067. Epub 2015 Feb 24. Hum Mol Genet. 2015. PMID: 25712129 Free PMC article.

8

INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex.

Mascibroda LG, Shboul M, Elrod ND, Colleaux L, Hamamy H, Huang KL, Peart N, Singh MK, Lee H, Merriman B, Jodoin JN, Sitaram P, Lee LA, Fathalla R, Al-Rawashdeh B, Ababneh O, El-Khateeb M, Escande-Beillard N, Nelson SF, Wu Y, Tong L, Kenney LJ, Roy S, Russell WK, Amiel J, Reversade B, Wagner EJ. Mascibroda LG, et al. Among authors: shboul m. Nat Commun. 2022 Oct 13;13(1):6054. doi: 10.1038/s41467-022-33547-8. Nat Commun. 2022. PMID: 36229431 Free PMC article.

9

Mitchell-Riley syndrome iPSCs exhibit reduced pancreatic endoderm differentiation due to a mutation in RFX6.

Trott J, Alpagu Y, Tan EK, Shboul M, Dawood Y, Elsy M, Wollmann H, Tano V, Bonnard C, Eng S, Narayanan G, Junnarkar S, Wearne S, Strutt J, Kumar A, Tomaz LB, Goy PA, Mzoughi S, Jennings R, Hagoort J, Eskin A, Lee H, Nelson SF, Al-Kazaleh F, El-Khateeb M, Fathallah R, Shah H, Goeke J, Langley SR, Guccione E, Hanley N, De Bakker BS, Reversade B, Dunn NR. Trott J, et al. Among authors: shboul m. Development. 2020 Nov 5;147(21):dev194878. doi: 10.1242/dev.194878. Development. 2020. PMID: 33033118

10

[No title available]

[No authors listed] [No authors listed] PMID: 34005010

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