Celemics, Inc.

Inherited Diseases

Validation of a Custom 30-gene Probe-capture Targeted Sequencing Panel to Detect Variants in FEVR-Linked Genes and the RS1 gene.

ARVO Annual Meeting Abstract Validation of a Custom 30-gene Probe-capture Targeted Sequencing Panel to Detect Variants in FEVR-Linked Genes and the RS1 gene. Krikor, S., Dailey, W. A., Pinnock, C.,…

Continue ReadingValidation of a Custom 30-gene Probe-capture Targeted Sequencing Panel to Detect Variants in FEVR-Linked Genes and the RS1 gene.

Multiplex-PCR technique to predict polymorphic antigens – M, N, S and s – and associations between their alleles and Mia-associated hybrid glycophorins

Scientific Reports Multiplex-PCR technique to predict polymorphic antigens – M, N, S and s – and associations between their alleles and Mia-associated hybrid glycophorins Kerdthip, T., Nathalang, O., Chidtrakoon, S.,…

Continue ReadingMultiplex-PCR technique to predict polymorphic antigens – M, N, S and s – and associations between their alleles and Mia-associated hybrid glycophorins

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

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