Pin F. Chong

639 Zhizaoju Road, China P.R
Huangpu, 200011, China

Last Updated: 09/26/2026

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Found 59 publications

Gain-of-function mutation of type 2 ryanodine receptor attenuates dopaminergic neuron development associated with Ca2+ overload-triggered oxidative damage in mitochondria.

Gain-of-function mutation of type 2 ryanodine receptor attenuates dopaminergic neuron development associated with Ca2+ overload-triggered oxidative damage in mitochondria.

Journal: Biochemical and biophysical research communications

Published: June 04, 2026

Rapidly progressive vasculopathy in an infantile-onset fibromuscular dysplasia.

Rapidly progressive vasculopathy in an infantile-onset fibromuscular dysplasia.

Journal: European journal of medical genetics

Published: January 09, 2026

Evolving epileptic activity under focal rhythmic Delta activity: insights from simultaneous intracranial and scalp EEG.

Evolving epileptic activity under focal rhythmic Delta activity: insights from simultaneous intracranial and scalp EEG.

Journal: Clinical neurophysiology practice

Published: January 07, 2026

Persistent lymphopenia in a Japanese boy with neuronal ceroid lipofuscinosis type 3.

Persistent lymphopenia in a Japanese boy with neuronal ceroid lipofuscinosis type 3.

Journal: European journal of medical genetics

Published: September 05, 2025

Altered lipidomic and metabolomic status in cerebrospinal fluid of children with myelin oligodendrocyte glycoprotein antibody-associated disorder.

Altered lipidomic and metabolomic status in cerebrospinal fluid of children with myelin oligodendrocyte glycoprotein antibody-associated disorder.

Journal: Biochemistry and biophysics reports

Published: May 16, 2025

Glutamate in cerebrospinal fluid as a diagnostic marker for acute encephalopathy in childhood.

Glutamate in cerebrospinal fluid as a diagnostic marker for acute encephalopathy in childhood.

Journal: Brain & development

Published: March 16, 2025

Methylmalonic acidemia with recurrent hemophagocytic lymphohistiocytosis: a case report and review of the literature.

Methylmalonic acidemia with recurrent hemophagocytic lymphohistiocytosis: a case report and review of the literature.

Journal: BMC pediatrics

Published: January 07, 2025

miR-199a functions downstream of MeCP2 in neurons of MECP2 duplication syndrome models.

miR-199a functions downstream of MeCP2 in neurons of MECP2 duplication syndrome models.

Journal: iScience

Published: December 05, 2024

Dural arteriovenous fistulae in a 6-year-old girl with trisomy 21 and congenital heart disease.

Dural arteriovenous fistulae in a 6-year-old girl with trisomy 21 and congenital heart disease.

Journal: Clinical neurology and neurosurgery

Published: July 27, 2024

Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield.

Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield.

Journal: Journal of human genetics

Published: June 26, 2024

Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron of ATP7A as a novel cause of occipital horn syndrome.

Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron of ATP7A as a novel cause of occipital horn syndrome.

Journal: Journal of medical genetics

Published: April 18, 2024

Expanding diversity in developmental profiles of very-low-birth-weight infants during 6 years after birth.

Expanding diversity in developmental profiles of very-low-birth-weight infants during 6 years after birth.

Journal: Scientific reports

Published: March 28, 2024

Showing 1-12 of 59

Last Updated: 09/26/2026