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T. Froukh

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Open access Jul 2026

Biallelic variants in consanguineous families causing neurodevelopmental disorders

Aim: Identify new genetic variants linked to neurodevelopmental disorders to be used in routine genetic diagnostics. Methods: Whole exome sequencing (WES) was used for ten unrelated families from Jordan characterized by one or two affected members with neurodevelopmental disorders (NDDs), in which the parents are consa...

T. Froukh, Eman Albsoul · 0 citations

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