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Pigment Cell & Melanoma Research, ISSN 1755-1471, 11/2019, Volume 32, Issue 6, pp. 848 - 853
Albinism, which is commonly inherited as an autosomal recessive trait, is characterized by a reduction or absence of melanin in the eyes, skin, and hair. To... 
targeted resequencing | BLOC‐3 | albinism | next‐generation sequencing | BLOC‐2 | BLOC-2 | next-generation sequencing | BLOC-3 | Skin | Mutation | Diagnosis | Albinism | Genes | Melanin
Journal Article
Journal Article
Medicine, ISSN 0025-7974, 03/2019, Volume 98, Issue 12, p. e14860
Hearing loss is a highly heterogeneous disease presented with various phenotypes. Genetic testing of disease-causing mutations plays an important role in... 
LANGUAGE | DIAGNOSIS | MEDICINE, GENERAL & INTERNAL | GJB2 | mutation detection | GENE | OTOGELIN | hearing loss | BGISEQ-500 | targeted NGS | Gene mutations | Genetic aspects | Nucleotide sequencing | Identification and classification | Health aspects | Risk factors | Methods | Hearing loss | DNA sequencing
Journal Article
The Anatomical Record, ISSN 1932-8486, 06/2019, Volume 302, Issue 6, pp. 941 - 946
ABSTRACT Identification of genomic alterations from formalin‐fixed paraffin‐embedded (FFPE) samples using next‐generation sequencing (NGS) is very important... 
cancer‐targeted | clinical application | library construction | NGS | FFPE | cancer-targeted | ANATOMY & MORPHOLOGY | Genetic research | Genetic aspects | DNA | Formaldehyde | Cancer | Hybridization | Paraffin | Deoxyribonucleic acid--DNA
Journal Article
Journal Article
Gene, ISSN 0378-1119, 03/2019, Volume 689, pp. 51 - 55
To diagnose a Chinese family with inherited ectopia lentis in a genetic method and analyze the genotype-phenotype correlation. The phenotype of each family... 
Inherited ectopia lentis | Targeted NGS | Mutation | Marfan syndrome | FBN1 | GENE | MARFAN-SYNDROME | GENETICS & HEREDITY
Journal Article