Search Results - "Brajadenta, Gara Samara"

A functional assay to study the pathogenicity of CHD7 protein variants encountered in CHARGE syndrome patients by Brajadenta, Gara Samara, Bilan, Frédéric, Gilbert-Dussardier, Brigitte, Kitzis, Alain, Thoreau, Vincent

“…CHARGE syndrome is a rare genetic disease characterized by numerous congenital abnormalities, mainly caused by de novo alterations of the CHD7 gene. It encodes…”
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Association of rs9939609 FTO Gene Polymorphism as a Risk Factor of Obesity in Adults by Pratamawati, Tiar Masykuroh, Sadji, Angel Angriani Elma Budai, Brajadenta, Gara Samara, Nauphar, Donny

“…Background: The cause of obesity is an imbalance between the number of calories taken and the amount burned. Obesity is a complex disease. The FTO rs9939609…”
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Association between ADIPOQ (rs1501299) SNP with Insulin Resistance in Indonesian Type 2 Diabetes Mellitus Patients by Donny Nauphar, Robby Irham Maulana Alfaqih, Gara Samara Brajadenta, Tiar M Pratamawati

“…Insulin resistance is an important aspect of metabolic endocrine disorder, and adiponectin functions as an insulin-sensitizer. Changes in adiponectin levels…”
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Molecular analysis of exon 7 of the fibroblast growth factor receptor 2 (FGFR2) gene in an Indonesian patient with Apert syndrome: a case report by Brajadenta, Gara Samara, Sari, Ariestya Indah Permata, Nauphar, Donny, Pratamawati, Tiar Masykuroh, Thoreau, Vincent

“…Apert syndrome, Online Mendelian Inheritance in Man number 101200, is a rare genetic condition, with autosomal dominant inheritance, characterized by…”
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Identification of a Novel CHD7 Mutation in a CHARGE Syndrome Patient in Indonesia by Brajadenta, Gara Samara, Utari, Agustini, Patri, Sylvie, Bilan, Frédéric, Faradz, Sultana Muhammad Hussein, Kitzis, Alain, Thoreau, Vincent

“…KCI Citation Count: 0…”
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Hubungan Polimorfisme SNP8NRG433E1006 Gen Neuregulin 1 (NRG1) dengan Skizofrenia pada Etnik Jawa by Cinta Cynthia Rudianto, Gara Samara Brajadenta, Alifiati Fitrikasari, Tri Indah Winarni

“…Gen neuregulin 1 (NRG1) berfungsi penting pada perkembangan sistem saraf dan merupakan kandidat gen penyebab skizofrenia. Polimorfisme SNP8NRG433E1006 pada…”
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Identification of a Novel CHD7 Mutation in a CHARGE Syndrome Patient in Indonesia by Brajadenta, Gara Samara, Utari, Agustini, Patri, Sylvie, Bilan, Frédéric, Faradz, Sultana Muhammad Hussein, Kitzis, Alain, Thoreau, Vincent

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