Pathogenic mutation - Globe Thesis

Keyword [Pathogenic mutation] Result: 1 - 18 \| Page: 1 of 1
1.	Congenital Generalized Hypertrichosis Terminalis: Genetic Mapping And Pathogenic Mutation Identification
2.	Study On Inner Ear Malformation For Its Classification And Relationship With SLC26A4 And GJB2 In Patient With Sensorineural Hearing Loss
3.	More Complicated Than The (toe) Deformity Genetic Mapping And Disease-causing Mutation Analysis Of The Retinoblastoma Rb1 Gene In Pathogenic Mutation Detection
4.	Identification Of X-linked Congenital Generalized Hair Histiocytosis Pathogenic Mutation
5.	Gene Diagnosis Of Idiopathic Hypogonadotropic Hypogonadism And Initial Function Study Of Pathogenic Mutation
6.	Development Of A High-throughput Resequencing Array For Pathogenic Mutation Detection Of Osteogenesis Imperfecta
7.	Clinical-pathological Analysis And New Pathogenic Mutation Study On ABCC6Gene In Chinese Patients With Pseudoxanthoma Elasticum
8.	Marfan Syndrome And Bronchodilation Pathogenic Mutation Studies
9.	The Genetic Screening Method Establishment And The Common Pathogenic Mutation Distribution Study On Familial Hypercholesterolemia Population From 16 Chinese Provinces
10.	Screening And Functional Research For Pathogenic Mutation Of FOXC2 Gene In Lymphedema-distichiasis Syndrome
11.	Pathogenicity Research Of Newly-detected Missense Mutation In G6PD Gene
12.	Identification Of A Novel Pathogenic Mutation In TBX5 Gene In A Family With Holt-Oram Syndrome
13.	Screening Of Pathogenic Gene Mutations In Families With Stargardt Disease, Cone-rod Dystrophy And Nance-Horan Syndrome
14.	Clinicopathological Features And Prognosis Of POLE-mutated Patients In High-grade Endometrial Carcinomas
15.	Computational Investigation On Mutation Effect Of Dnmt3a R882H And Allosteric Effect Of Akt1 Phosphorylation
16.	Pathogenic Mutation Screening Of A Hereditary Angioedema Family And The Gene Function Study
17.	Analysis Of Clinical Phenotype And Genetic Etiology Of A Family With Pulmonary Atresia
18.	Preliminary Study On The Activity And Mechanism Of FGD4 Pathogenic Mutation
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