autosomal recessive inheritance - Globe Thesis

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1.	Genetic Screening Of Mutation Hot-spots For Subjects With Nonsyndromic Hearing Loss And A Novel MYO7A Gene Mutation Analysis In A Deafness Family
2.	Pathological Characteristics And Autosomal Recessive Mutations Of Chinese Osteogenesis Imperfecta Patients
3.	The Clinical Diagnosis And Molecular Genetic Analysis Of Osteopetrosis
4.	Study Of Phenotype And Genetic Characteristics Of Mada Pedigree
5.	Pathogenic Gene Mutations And Methylation Analysis Of Collagen Type â… Genes In Chinese Patients With Osteogenesis Imperfecta
6.	Identification Of CDH23 Mutation In A Family With Usher Syndrome
7.	The Clinical Characteristics And Mutation Analysis Of Parkin Gene In Two Families With Autosomal Recessive Early Onset Parkinsonism
8.	A Genetic Study Of TYR Gene In Seventeen Patients With Oculocutaneous Albinism
9.	Analysis Of Whole Exome Sequencing In 330 Children With Suspected Genetic Diseases
10.	Identification Of RHO Mutation In A Family With Retinitis Pigmentosa And Concomitant Angleclosure Glaucoma
11.	A Case Of Congenital Nephrogenic Diabetes Insipidus Caused By Variant Of Aquaporin 2 And Literature Review
12.	Analysis Of Whole Exome Sequencing In 572 Children With Mendelian Disease
13.	The Clinic And Genetic Analysis Of TH Gene Related Dopa-responsive Dystonia
14.	Identification Of The Disease-causing Gene Variants In A Family With Primary Ciliary Dyskinesia
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