Taoudi M - Search Results

1

Exome sequencing revealed a novel homozygous METTL23 gene mutation leading to familial mild intellectual disability with dysmorphic features.

Smaili W, Elalaoui SC, Zrhidri A, Raymond L, Egéa G, Taoudi M, Mouatassim SEL, Sefiani A, Lyahyai J. Smaili W, et al. Among authors: taoudi m. Eur J Med Genet. 2020 Jul;63(7):103951. doi: 10.1016/j.ejmg.2020.103951. Epub 2020 May 18. Eur J Med Genet. 2020. PMID: 32439618

2

Identification of two novel SH3PXD2B gene mutations in Frank-Ter Haar syndrome by exome sequencing: Case report and review of the literature.

Zrhidri A, Jaouad IC, Lyahyai J, Raymond L, Egéa G, Taoudi M, El Mouatassim S, Sefiani A. Zrhidri A, et al. Among authors: taoudi m. Gene. 2017 Sep 10;628:190-193. doi: 10.1016/j.gene.2017.07.011. Epub 2017 Jul 8. Gene. 2017. PMID: 28694206 Review.

3

Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease.

Zrhidri A, Amasdl S, Lyahyai J, Elouardi H, Chkirate B, Raymond L, Egéa G, Taoudi M, El Mouatassim S, Sefiani A. Zrhidri A, et al. Among authors: taoudi m. Pediatr Rheumatol Online J. 2017 Sep 26;15(1):72. doi: 10.1186/s12969-017-0200-2. Pediatr Rheumatol Online J. 2017. PMID: 28950892 Free PMC article.

4

A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report.

Cherkaoui Jaouad I, Zrhidri A, Jdioui W, Lyahyai J, Raymond L, Egéa G, Taoudi M, El Mouatassim S, Sefiani A. Cherkaoui Jaouad I, et al. Among authors: taoudi m. BMC Med Genet. 2018 Jul 18;19(1):118. doi: 10.1186/s12881-018-0625-6. BMC Med Genet. 2018. PMID: 30021525 Free PMC article.

5

Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report.

Adadi N, Sahli M, Egéa G, Ratbi I, Taoudi M, Zniber L, Jdioui W, El Mouatassim S, Sefiani A. Adadi N, et al. Among authors: taoudi m. J Med Case Rep. 2018 Oct 29;12(1):322. doi: 10.1186/s13256-018-1855-0. J Med Case Rep. 2018. PMID: 30371346 Free PMC article.

6

Implementation of long-read sequencing for routine molecular diagnosis of familial mediterranean fever.

Vanhoye X, Mouty P, Mouty S, Bargues N, Couprie N, Fayolle E, Géromel V, Taoudi M, Raymond L, Taly JF. Vanhoye X, et al. Among authors: taoudi m. Pract Lab Med. 2024 Aug 10;41:e00423. doi: 10.1016/j.plabm.2024.e00423. eCollection 2024 Aug. Pract Lab Med. 2024. PMID: 39228674 Free PMC article.

7

[Mechanical ventilation during MRI in children. Anesthetic constraints].

Sifeddine S, Badaoui R, Hassi N, Taoudi MB, Ossart M. Sifeddine S, et al. Among authors: taoudi mb. Cah Anesthesiol. 1994;42(5):583-7. Cah Anesthesiol. 1994. PMID: 7728601 French.

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