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Year Number of Results
2010 1
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2012 6
2013 7
2014 3
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2017 2
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2019 12
2020 9
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2023 1
2024 2

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Page 1
Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophy.
Zeitz C, Navarro J, Azizzadeh Pormehr L, Méjécase C, Neves LM, Letellier C, Condroyer C, Albadri S, Amprou A, Antonio A, Ben-Yacoub T, Wohlschlegel J, Andrieu C, Serafini M, Bianco L, Antropoli A, Nassisi M, El Shamieh S, Chantot-Bastaraud S, Mohand-Saïd S, Smirnov V, Sahel JA, Del Bene F, Audo I. Zeitz C, et al. Among authors: el shamieh s. Genet Med. 2024 Jan 28:101081. doi: 10.1016/j.gim.2024.101081. Online ahead of print. Genet Med. 2024. PMID: 38293907 Free article.
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L, Joumaa H, Noureldine J, Banjak M, Ibrahim M, Mrad Z, Salami A, Shamieh SE. Jaffal L, et al. Among authors: shamieh se. BMC Med Genomics. 2023 May 1;16(1):89. doi: 10.1186/s12920-023-01518-7. BMC Med Genomics. 2023. PMID: 37127645 Free PMC article.
Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals.
Maltese PE, Colombo L, Martella S, Rossetti L, El Shamieh S, Sinibaldi L, Passarelli C, Coppè AM, Buzzonetti L, Falsini B, Chiurazzi P, Placidi G, Tanzi B, Bertelli M, Iarossi G. Maltese PE, et al. Among authors: el shamieh s. Front Genet. 2022 Jun 28;13:914345. doi: 10.3389/fgene.2022.914345. eCollection 2022. Front Genet. 2022. PMID: 35836572 Free PMC article.
The research output of rod-cone dystrophy genetics.
Jaffal L, Mrad Z, Ibrahim M, Salami A, Audo I, Zeitz C, El Shamieh S. Jaffal L, et al. Among authors: el shamieh s. Orphanet J Rare Dis. 2022 Apr 23;17(1):175. doi: 10.1186/s13023-022-02318-5. Orphanet J Rare Dis. 2022. PMID: 35461258 Free PMC article. Review.
64 results