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Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.
Epilepsia. 2022 Oct;63(10):2519-2533. doi: 10.1111/epi.17336. Epub 2022 Aug 13.
Epilepsia. 2022.
PMID: 35718920
Free PMC article.
Review.
WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects.
Karam A, Delvallée C, Estrada-Cuzcano A, Geoffroy V, Lamouche JB, Leuvrey AS, Nourisson E, Tarabeux J, Stoetzel C, Scheidecker S, Porter LF, Génin E, Redon R, Sandron F, Boland A, Deleuze JF, Le May N, Dollfus H, Muller J.
Karam A, et al. Among authors: porter lf.
Int J Mol Sci. 2023 May 13;24(10):8729. doi: 10.3390/ijms24108729.
Int J Mol Sci. 2023.
PMID: 37240074
Free PMC article.
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Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation.
Mauring L, Porter LF, Pelletier V, Riehm A, Leuvrey AS, Gouronc A, Studer F, Stoetzel C, Dollfus H, Muller J.
Mauring L, et al. Among authors: porter lf.
Front Genet. 2020 Aug 21;11:938. doi: 10.3389/fgene.2020.00938. eCollection 2020.
Front Genet. 2020.
PMID: 32973878
Free PMC article.
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