Smaili W - 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. 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

CALR gene mutational profile in myeloproliferative neoplasms with non-mutated JAK2 in Moroccan patients: A case series and germline in-frame deletion.

Smaili W, Doubaj Y, Laarabi FZ, Lyahyai J, Kerbout M, Mikdame M, Sefiani A. Smaili W, et al. Curr Res Transl Med. 2017 Jan-Mar;65(1):15-19. doi: 10.1016/j.retram.2016.08.002. Epub 2016 Nov 3. Curr Res Transl Med. 2017. PMID: 28340692

3

A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report.

Smaili W, Elalaoui SC, Meier S, Zerkaoui M, Sefiani A, Heinimann K. Smaili W, et al. BMC Med Genet. 2017 May 3;18(1):50. doi: 10.1186/s12881-017-0413-8. BMC Med Genet. 2017. PMID: 28468609 Free PMC article.

4

A novel frameshift mutation in the XPC gene in a Moroccan patient: a case report.

Doubaj Y, Smaili W, Laarabi FZ, Sefiani A. Doubaj Y, et al. Among authors: smaili w. J Med Case Rep. 2017 Jun 15;11(1):158. doi: 10.1186/s13256-017-1311-6. J Med Case Rep. 2017. PMID: 28615033 Free PMC article.

5

Surprisingly good outcome in antenatal diagnosis of severe hydrocephalus related to CCDC88C deficiency.

Wallis M, Baumer A, Smaili W, Jaouad IC, Sefiani A, Jacobson E, Bowyer L, Mowat D, Rauch A. Wallis M, et al. Among authors: smaili w. Eur J Med Genet. 2018 Apr;61(4):189-196. doi: 10.1016/j.ejmg.2017.12.002. Epub 2017 Dec 7. Eur J Med Genet. 2018. PMID: 29225145

6

Familial X/Y Translocation Encompassing ARSE in Two Moroccan Siblings with Sensorineural Deafness.

Amasdl S, Smaili W, Natiq A, Hassani A, Sbiti A, Agadr A, Sanlaville D, Sefiani A. Amasdl S, et al. Among authors: smaili w. Cytogenet Genome Res. 2017;153(2):66-72. doi: 10.1159/000485071. Epub 2017 Dec 16. Cytogenet Genome Res. 2017. PMID: 29248929

7

Clinical exome sequencing identifies two novel mutations of the SCN1A and SCN2A genes in Moroccan patients with epilepsy: a case series.

Sahli M, Zrhidri A, Elaloui SC, Smaili W, Lyahyai J, Oudghiri FZ, Sefiani A. Sahli M, et al. Among authors: smaili w. J Med Case Rep. 2019 Aug 23;13(1):266. doi: 10.1186/s13256-019-2203-8. J Med Case Rep. 2019. PMID: 31439038 Free PMC article.

8

Application of next generation sequencing in genetic counseling a case of a couple at risk of cystinosis.

Ouhenach M, Zrhidri A, Jaouad IC, Smaili W, Sefiani A. Ouhenach M, et al. Among authors: smaili w. BMC Med Genet. 2020 Dec 12;21(1):240. doi: 10.1186/s12881-020-01167-y. BMC Med Genet. 2020. PMID: 33308164 Free PMC article.

9

Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome.

Elalaoui SC, Smaili W, Van-Gils J, Fergelot P, Ratbi I, Tajir M, Arveiler B, Lacombe D, Sefiani A. Elalaoui SC, et al. Among authors: smaili w. Afr Health Sci. 2021 Jun;21(2):960-967. doi: 10.4314/ahs.v21i2.58. Afr Health Sci. 2021. PMID: 34795756 Free PMC article.

10

High frequency of hotspot mutation in PTPN11 gene among Moroccan patients with Noonan syndrome.

Ouboukss F, Adadi N, Amasdl S, Smaili W, Laarabi FZ, Lyahyai J, Sefiani A, Ratbi I. Ouboukss F, et al. Among authors: smaili w. J Appl Genet. 2024 May;65(2):303-308. doi: 10.1007/s13353-023-00803-6. Epub 2023 Nov 21. J Appl Genet. 2024. PMID: 37987971

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