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1.
WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects.
Int J Mol Sci;
24(10)2023 May 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-37240074
2.
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;
63(10): 2519-2533, 2022 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-35718920
3.
Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation.
Front Genet;
11: 938, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32973878
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