日期 影响因子
日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:
–

Evidences for gestures associated with pruritus in very young infants: a pilot study

婴儿瘙痒相关手势的证据：一项初步研究

期刊:Scientific Reports
影响因子:3.9
doi:10.1038/s41598-025-93412-8
Boyard, Adrien; Cosnard, Camille; Simon, David; Le Pors, Camille; Abasq-Thomas, Claire; Grandgeorge, Marine; Misery, Laurent; Henry, Séverine; Roué, Jean-Michel
发表日期：2025
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Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation

对法国大型视锥细胞和视锥-视杆细胞营养不良队列进行新一代测序：突变谱和新的基因型-表型相关性

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-015-0300-3
Boulanger-Scemama, Elise; El Shamieh, Said; Démontant, Vanessa; Condroyer, Christel; Antonio, Aline; Michiels, Christelle; Boyard, Fiona; Saraiva, Jean-Paul; Letexier, Mélanie; Souied, Eric; Mohand-Saïd, Saddek; Sahel, José-Alain; Zeitz, Christina; Audo, Isabelle
细胞生物学
发表日期：2015
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Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy

全外显子组测序鉴定出KIZ是一种与常染色体隐性遗传性视杆细胞-视锥细胞营养不良相关的纤毛基因。

期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2014.03.005
El Shamieh, Said; Neuillé, Marion; Terray, Angélique; Orhan, Elise; Condroyer, Christel; Démontant, Vanessa; Michiels, Christelle; Antonio, Aline; Boyard, Fiona; Lancelot, Marie-Elise; Letexier, Mélanie; Saraiva, Jean-Paul; Léveillard, Thierry; Mohand-Saïd, Saddek; Goureau, Olivier; Sahel, José-Alain; Zeitz, Christina; Audo, Isabelle
细胞生物学
发表日期：2014
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