Compound heterozygous - Globe Thesis

Keyword [Compound heterozygous] Result: 1 - 16 \| Page: 1 of 1
1.	Mutation Analysis In330Chinese Cases With DMD/BMD And Genetic Analysis In A Fetus With Compound Heterozygous DMD Mutations
2.	Exome Sequencing Identifies Novel Compound Heterozygous Mutations In SPG11That Cause Autosomal Recessive Hereditary Spastic Paraplegia
3.	A New Compound Heterozygous Mutation In CYP17A1 Gene Causes 17α-hydroxylase Deficiency And Pedigree Study
4.	Study Of Phenotype And Genetic Characteristics Of Mada Pedigree
5.	Screening And Analysis Of A Pathogenic Gene In A Myasthenia Gravis Family
6.	Effect Of Compound Heterozygous ASXL3 Gene Mutation In A Mouse Model By Integrated Bioinformatic Analysis And Its Interaction With SOCS3 And PSD95
7.	Clinical And Genetic Study Of Patients With Fertilization Or Embryo Development Failure
8.	Novel SACS Compound Heterozygous Mutations Of ARSACS In A Chinese Family And A Review Of The Literature
9.	Study On Congenital Coagulation Factor ? Deficiency Caused By Compound Heterozygous Mutations Of P.Thr241Asn And C.681+1G>T
10.	A Study On The Pathogenic Genes Of A Hereditary Spastic Paraplegia Family Basedon Second-generation Sequencing Targetedcapture Technology
11.	An Exploratory Study On The Relationship Between NOTCH1 Compound Heterozygosity And Tetralogy Of Fallot
12.	Mutation Detection In Chinese Patients With Glycogen Storge Diseases Multation Analysis Of The ELN Gene In A Child With Mild Congenital Cutis Laxa
13.	The Pathogenic Mechanism Studies And The Genotype-Phenotype Correlation Of MYH3 Associated Congenital Scoliosis
14.	A Novel Compound Heterozygous Mutation In ABCA3 Gene In A Child With Interstitial Lung Disease
15.	Pathogenicity Study Of Limb-girdle Muscular Dystrophy Type 2Q Caused By Plec Gene Novel Mutations
16.	The Mechanism Of Autosomal Recessive Rod-Cone Dystrophy Caused By Compound Heterozygous Variants In ARl3 Gene
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