Associated Papers
Diagnosis and genetic analysis of a case with Bardet-Biedl syndrome caused by compound heterozygous mutations in the BBS12 gene.
Shen YT et al.
Yi Chuan = Hereditas, 2022
An approach to integrating exome sequencing for fetal structural anomalies into clinical practice.
Vora NL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Clinical application of whole-exome sequencing across clinical indications.
Retterer K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders.
Yavarna T et al.
Human Genetics, 2015
In search of triallelism in Bardet-Biedl syndrome.
Abu-Safieh L et al.
European Journal of Human Genetics : Ejhg, 2012
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