Search Results - "Faradz, Sultana Muhammad Hussein"
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Identification of a Novel CHD7 Mutation in a CHARGE Syndrome Patient in Indonesia
Published in Annals of laboratory medicine (01-09-2019)“…KCI Citation Count: 0…”
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Erratum: The use of high-resolution melting techniques for mutation screening of diseases caused by trinucleotide repeats expansion, with emphasis on the AR gene
Published in Medical journal of Indonesia (02-07-2020)“…[This corrects the article DOI: 10.13181/mji.v28i2.3008]…”
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The use of high-resolution melting techniques for mutation screening of diseases caused by trinucleotide repeats expansion, with emphasis on the AR gene
Published in Medical journal of Indonesia (01-06-2019)“…BACKGROUND Trinucleotide repeat expansion (TRE) diseases are genetic diseases caused by an increase in the number of CAG, CGG, and CTG codons. CAG repeat…”
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Repeat expansion and methylation-sensitive triplet-primed polymerase chain reaction for fragile X mental retardation 1 gene screening in institutionalised intellectually disabled individuals
Published in Singapore medical journal (01-03-2021)“…Fragile X syndrome (FXS) is the most prevalent X-linked intellectual disability (ID) and a leading genetic cause of autism, characterised by cognitive and…”
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5
Identification of a Novel CHD7 Mutation in a CHARGE Syndrome Patient in Indonesia
Published in Annals of laboratory medicine (01-09-2019)Get full text
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