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Keyword [Homozygous]
Result: 41 - 52 | Page: 3 of 3
41.
Usefulness Of Two-dimensional Speckle Tracking Imaging Analysis Left Ventricle Function In Familial Hypercholesterolemia
42.
The Function And Mechanism Of The Novel Homozygous Mutation Of DNAJB6 In Myofibrillar Myopathy
43.
Novel Homozygous Mutation Causing Familial Lecithin Cholesterol Acyltransferase Deficiency With Renal Damage:A Case Report And Literature Review
44.
Homozygous Mutations In MITF May Be Associated With Waardenburg Syndrome 4
45.
Analysis Of Whole Exome Sequencing In 572 Children With Mendelian Disease
46.
Identification And Analysis Of New Mutation Sites Of NSUN2 Pathogenic Genes In Mental Retardation Families Based On High-throughput Sequencing Technology
47.
Analysis Of SMN Homozygous Deletion And Copy Number For Spinal Muscular Atrophy And Mechanism Of IGF-1R Induced By Testosterone Affects The Life Span Of FVB
48.
Genetic Screening Of Sporadic Syndromic Deafness Patient With Osteopetrosis
49.
Study On Synthesis Process Of Lomitapde Mesylate,a Novel Drug For Homozygous Familial Hypercholesterolemia
50.
Study On The Second Pathogenic Factors Of Large Vestibular Aqueduct Syndrome And Hearing Phenotypes Of Patients With Hearing Loss Homozygous For The GJB2 C.235delC Mutation
51.
Pathophysiological Mechanisms Of Cardiac Damage And Metabolic Abnormalities Caused By Lmna P.R349W Mutation
52.
Phenotype Of A Mouse Model Of Combined Methylmalonic Acidemia Caused By MMACHC Gene C.80A>G(p.G27R) Homozygous Mutation
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