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Application of Flow Cytometry in the Diagnostics Pipeline of Primary Immunodeficiencies Underlying Disseminated Talaromyces marneffei Infection in HIV-Negative Children

scientific article published on 13 September 2019

Exome sequencing identifies molecular diagnosis in children with drug-resistant epilepsy

artículo científico publicado en 2018

Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism.

artículo científico publicado en 2017

Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES)

scientific article published on 25 October 2018

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

artículo científico publicado en 2020

Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion.

artículo científico publicado en 2017

Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome

scientific article published on 22 November 2019

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