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Inherited Diseases

Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience

Annals of Pediatric Endocrinology & Metabolism Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience Kim SJ, Joo E, Park J, Seol CA, Lee J-E.…

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Paternally Inherited Noonan Syndrome Caused by a PTPN11 Variant May Exhibit Mild Symptoms: A Case Report and Literature Review

Genes Paternally Inherited Noonan Syndrome Caused by a PTPN11 Variant May Exhibit Mild Symptoms: A Case Report and Literature Review Han JY, Park J. Paternally inherited Noonan syndrome caused by…

Continue ReadingPaternally Inherited Noonan Syndrome Caused by a PTPN11 Variant May Exhibit Mild Symptoms: A Case Report and Literature Review

Novel compound heterozygous mutations in SCN4A as a potential genetic cause contributing to myopathic manifestations: A case report and literature review

Heliyon Novel compound heterozygous mutations in SCN4A as a potential genetic cause contributing to myopathic manifestations: A case report and literature review Han JY, Park J. Novel compound heterozygous mutations…

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Importance of targeted next-generation sequencing in pediatric patients with developmental epileptic encephalopathy

Rev Assoc Med Bras Importance of targeted next-generation sequencing in pediatric patients with developmental epileptic encephalopathy Bariş S, Kırık S, Balasar Ö. Importance of targeted next-generation sequencing in pediatric patients…

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