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Keyword [autosomal recessive]
Result: 1 - 20 | Page: 1 of 3
1. A Novel Gene Is A Positional Candidate For Autosomal Recessive Polycystic Kidney Disease(ARPKD)
2. Analysis Of Clinical Features And Study Of Responsible Genes For The Chinese Retinitis Pigmentosa And Usher Syndrome Families
3. The Effect Of Mutated DJ-1 Protein To Cellular Mitochondrial Function And Expression Profiles Of Genes And The Correlation Analysis Of Genotype And Phenotype Of AREP
4. Analysis Of The Candidate Genes In An Autosomal Recessive Nonsyndromic Hearing Impairment Kindred
5. Screening For DJ-1 Gene Mutation By Real-time PCR And Direct Sequencing
6. Analysis Of The Relatoin Between Gene Mutation And Clinical Phenotype For Autosomal Recessive Families
7. The Screening Of GJB2 Gene Mutation In Chinese Sporadic Sensorineural Hearing Loss Patients
8. Parkinson's Disease Parkin Gene Polymorphism And Dj-1 Gene Point Mutations
9. Genetic Research Of Wilson's Disease
10. The Contribution Of GJB2 235delC Mutations To 252 Cases Of Nonsyndromic Hearing Impairment (NSHI) Patients In Parts Of Shandong Province
11. Study On Mutations Of ECM1 In Lipoid Proteinosis
12. Hearing Conditions Of Centenarians And Analysis Of Causal Gene In A Chinese Hereditary Hearing Loss Pedigree
13. Genetic Screening Of Mutation Hot-spots For Subjects With Nonsyndromic Hearing Loss And A Novel MYO7A Gene Mutation Analysis In A Deafness Family
14. Exome Sequencing Identifies Novel Compound Heterozygous Mutations In SPG11That Cause Autosomal Recessive Hereditary Spastic Paraplegia
15. Fahr Disease Of A Chinese Family With Peripheral Nerve Injury And Normal SLC20A2Genes
16. Study On Clinical Features And Molecular Genetics Of Autosomal Recessive Hereditary Hypotrichosis
17. Screening For The Causative Gene In An Autosomal Recessive Cerebellar Ataxia Pedigree Using Exome Sequencing
18. Analysis Of Autosomal Recessive Retinitis Pigmentosa Sporadic Genetic Screening And Clinical Phenotype
19. Pathological Characteristics And Autosomal Recessive Mutations Of Chinese Osteogenesis Imperfecta Patients
20. Genetic And Phenotypic Analysis Of Patients With Early-onset Parkinson Disease From Consanguineous Families
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