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181. Effects Of VHL And EGLN1 Gene Mutations On Clinical Phenotypes In A Family Of VHL Syndrome
182. Clinical Characteristics And Mutation Site Analysis Of A Family With Autosomal Dominant Polycystic Liver Disease
183. Genetic Studies Of A Family With Congenital Hereditary Corneal Dystrophy And A Family With Mucopolysaccharidosis Type ?
184. A New Pathogenic Variation Of ETA1 Gene In A Family With BOR Syndrome
185. A Research On The Pathogenic Mechanism Of A Family With Cleidocranial Dysplasia
186. Analysis Of Clinical Phenotype And Genetic Etiology Of A Family With Pulmonary Atresia
187. A Family Report Of Charcot-Marie-Tooth Disease Type 4C Was Induced By Novel Mutations In The SH3TC2 Gene And Previous Literature Review Analysis
188. Identification Of PRSS56 Mutation In A Family With High Myopia And The Study Of The Correlation Between This Gene And Refractive Error
189. Identification Of The Causative Genes For A Family With Usher Syndrome And The Meta Analysis Of Epidemiological Studies In Usher Syndrome
190. Diagnosis Of Variant-Type Xeroderma Pigmentosum In A Family By Whole-Exome Sequencing
191. Detection Of POLH Gene Mutation In A Family With Xeroderma Pigmentosum
192. Histological And Gene Sequencing Analysis Of A Family With Hereditary Dentin Dysplasia Type ?
193. Orthodontic Treatment And Genetic Analysis In Patients With Cleidocranial Dysplasia Of A Family
194. Screening And Analysis Of Genetic Susceptibility Genes In A Family With Progressive Atrioventricular Block In Hainan
195. Investigation Of A Family With Glanzmann's Thrombasthenia Caused By Deletion/Insertion Mutation In GP?a Gene And Literature Review
196. A Study On The Screening Of Pathogenic Genes In A Family With Bivalve Aortic Valve Malformation And The Study On The Clinical Characteristics Of Infective Endocarditis
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