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Inherited Diseases

The Aggravation of Neuropsychiatric Symptoms in the Offspring of a Korean Family with Intellectual Disability and Developmental Delay Caused by a Novel ARX p.Lys385Ter Variant

International Journal of Molecular Sciences The Aggravation of Neuropsychiatric Symptoms in the Offspring of a Korean Family with Intellectual Disability and Developmental Delay Caused by a Novel ARX p.Lys385Ter Variant…

Continue ReadingThe Aggravation of Neuropsychiatric Symptoms in the Offspring of a Korean Family with Intellectual Disability and Developmental Delay Caused by a Novel ARX p.Lys385Ter Variant

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

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