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Year | Number of Results |
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2019 | 2 |
2021 | 3 |
2023 | 1 |
2024 | 2 |
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Page 1
Molecular Genetic Dissection of Inflammatory Linear Verrucous Epidermal Naevus Leads to Successful Targeted Therapy.
J Invest Dermatol. 2021 Dec;141(12):2979-2983.e1. doi: 10.1016/j.jid.2021.02.765. Epub 2021 Jun 8.
J Invest Dermatol. 2021.
PMID: 34116062
Free PMC article.
No abstract available.
Mosaic BRAF Fusions Are a Recurrent Cause of Congenital Melanocytic Nevi Targetable by MAPK Pathway Inhibition.
Martin SB, Polubothu S, Bruzos AL, Kelly G, Horswell S, Sauvadet A, Bryant D, Zecchin D, Riachi M, Michailidis F, Sadri A, Muwanga-Nanyonjo N, Lopez-Balboa P, Knöpfel N, Bulstrode N, Pittman A, Yeh I, Kinsler VA.
Martin SB, et al. Among authors: riachi m.
J Invest Dermatol. 2024 Mar;144(3):593-600.e7. doi: 10.1016/j.jid.2023.06.213. Epub 2023 Sep 15.
J Invest Dermatol. 2024.
PMID: 37716647
Free article.
Item in Clipboard
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Carmignac V, Mignot C, Blanchard E, Kuentz P, Aubriot-Lorton MH, Parker VER, Sorlin A, Fraitag S, Courcet JB, Duffourd Y, Rodriguez D, Knox RG, Polubothu S, Boland A, Olaso R, Delepine M, Darmency V, Riachi M, Quelin C, Rollier P, Goujon L, Grotto S, Capri Y, Jacquemont ML, Odent S, Amram D, Chevarin M, Vincent-Delorme C, Catteau B, Guibaud L, Arzimanoglou A, Keddar M, Sarret C, Callier P, Bessis D, Geneviève D, Deleuze JF, Thauvin C, Semple RK, Philippe C, Rivière JB, Kinsler VA, Faivre L, Vabres P.
Carmignac V, et al. Among authors: riachi m.
Genet Med. 2021 Aug;23(8):1484-1491. doi: 10.1038/s41436-021-01161-6. Epub 2021 Apr 8.
Genet Med. 2021.
PMID: 33833411
Free PMC article.
Item in Clipboard
Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Carmignac V, Mignot C, Blanchard E, Kuentz P, Aubriot-Lorton MH, Parker VER, Sorlin A, Fraitag S, Courcet JB, Duffourd Y, Rodriguez D, Knox RG, Polubothu S, Boland A, Olaso R, Delepine M, Darmency V, Riachi M, Quelin C, Rollier P, Goujon L, Grotto S, Capri Y, Jacquemont ML, Odent S, Amram D, Chevarin M, Vincent-Delorme C, Catteau B, Guibaud L, Arzimanoglou A, Keddar M, Sarret C, Callier P, Bessis D, Geneviève D, Deleuze JF, Thauvin C, Semple RK, Philippe C, Rivière JB, Kinsler VA, Faivre L, Vabres P.
Carmignac V, et al. Among authors: riachi m.
Genet Med. 2021 Aug;23(8):1585. doi: 10.1038/s41436-021-01217-7.
Genet Med. 2021.
PMID: 34257424
Free PMC article.
No abstract available.
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Functional assessment of variants associated with Wolfram syndrome.
Riachi M, Yilmaz S, Kurnaz E, Aycan Z, Çetinkaya S, Tranebjærg L, Rendtorff ND, Bitner-Glindzicz M, Bockenhauer D, Hussain K.
Riachi M, et al.
Hum Mol Genet. 2019 Nov 15;28(22):3815-3824. doi: 10.1093/hmg/ddz212.
Hum Mol Genet. 2019.
PMID: 31600780
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Inflammatory linear verrucous epidermal nevus should be genotyped to direct treatment and genetic counseling.
Polubothu S, Riachi M, Stadnik P, Ogunbiyi O, Brändli-Wälchli R, Cullup T, Sebire NJ, Pittman A, Kinsler VA.
Polubothu S, et al. Among authors: riachi m.
J Am Acad Dermatol. 2024 Jun;90(6):1279-1280. doi: 10.1016/j.jaad.2024.01.075. Epub 2024 Feb 14.
J Am Acad Dermatol. 2024.
PMID: 38360177
Free article.
No abstract available.
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A novel 3' untranslated region mutation in the SLC29A3 gene associated with pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus syndrome.
Riachi M, Bas F, Darendeliler F, Hussain K.
Riachi M, et al.
Pediatr Diabetes. 2019 Jun;20(4):474-481. doi: 10.1111/pedi.12839. Epub 2019 Apr 2.
Pediatr Diabetes. 2019.
PMID: 30821020
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