autosomal recessive - Globe Thesis

Keyword [autosomal recessive] Result: 41 - 53 \| Page: 3 of 3
41.	Investigation of daily four month sildenafil administration on heterozygous carriers of a phosphodiesterase 6 mutation in a canine model of autosomal recessive retinitis pigmentosa
42.	In search of a novel autosomal recessive cause of non syndromic intellectual disability
43.	The Establishment Of Genetic Diagnosis Platform For Hereditary Cerebellar Ataxia And Mapping And Cloning Of Novel Causative Genes For Hereditary Cerebellar Ataxia
44.	Clinical And Molecular Genetic Mechanism Of FGF23 Mutation-related Diseases. Study On The Metabolic Regulation Mechanism Of ENPP1 On FGF23
45.	Analysis Of Whole Exome Sequencing In 572 Children With Mendelian Disease
46.	Study On Application Of High Throughput Sequencing Technology To Screen Genetic Mutations In Inherited Polycystic Kidney
47.	The Clinic And Genetic Analysis Of TH Gene Related Dopa-responsive Dystonia
48.	The Mechanism Of Autosomal Recessive Rod-Cone Dystrophy Caused By Compound Heterozygous Variants In ARl3 Gene
49.	Genetic Screening Of Sporadic Syndromic Deafness Patient With Osteopetrosis
50.	A Study Of Mutation Spectrum And Clinical Features In Patients With Autosomal Recessive Cerebellar Ataxia And Related Disorders
51.	Identification Of The Gene In A Family With Autosomal Recessive Inheritable Disease Schwachman-diamond Syndrome And Studies On The Function Of MEF2A
52.	Identification And Functional Study Of A Novel Pathogenetic Gene TNN In A Pedigree Of Autosomal Recessive Hereditary Non-syndromic Auditory Neuropathy
53.	Identification Of The Disease-causing Gene Variants In A Family With Primary Ciliary Dyskinesia
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