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Keyword [Whole-exomesequencing]
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1. Screening Of Pathogenic Genes In Congenital Hypothyroidism With Thyroid Hypoplasia
2. Novel Pathological Mutation Screening For A Family Disorder Resembling Aarskog Syndrome
3. Screening For The Causative Gene In An Autosomal Recessive Cerebellar Ataxia Pedigree Using Exome Sequencing
4. Identification Of The Causative Genes For Three Families With Autosomal Dominant Hereditary Hearing Loss And One Family With Auditory Neuropathy
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