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2. A recurrent single‐exon deletion in TBCK might be under‐recognized in patients with infantile hypotonia and psychomotor delay. Issue 12 (6th November 2022)

3. Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients. Issue 6 (23rd February 2022)

4. D‐bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia. Issue 1 (8th October 2021)

7. Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders. Issue 5 (12th February 2016)

8. Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?. Issue 4 (2nd January 2018)

9. Region‐specific impairments in striatal synaptic transmission and impaired instrumental learning in a mouse model of Angelman syndrome. (13th December 2013)

10. Region‐specific impairments in striatal synaptic transmission and impaired instrumental learning in a mouse model of Angelman syndrome. (13th December 2013)