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Publications by Xiang-Ling He
SLC25A13 Gene Analysis in Citrin Deficiency: Sixteen Novel Mutations in East Asian Patients, and the Mutation Distribution in a Large Pediatric Cohort in China
PLoS ONE
Multidisciplinary
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Gene Mutation and Pedigree Analysis of Tetrahydrobiopterin Deficiency in a Uygur Family of China
Journal of Clinical Laboratory Analysis
Allergy
Immunology
Biochemistry
Public Health
Medical Laboratory Technology
Clinical Biochemistry
Hematology
Microbiology
Environmental
Occupational Health
Identification of a Novel Splicing Mutation in the SLC25A13 Gene From a Patient With NICCD: A Case Report
BMC Pediatrics
Child Health
Pediatrics
Perinatology
Novel Genotype-Phenotype and MRI Correlations in a Large Cohort of Patients With SPG7 Mutations
Neurology: Genetics
Neurology
Genetics
Mutation Analysis of the RPGR Gene Reveals Novel Mutations in South European Patients With X-Linked Retinitis Pigmentosa
European Journal of Human Genetics
Genetics
Six Cases of Citrin Deficiency in Korea
International Journal of Molecular Medicine
Medicine
Genetics
APC and MUTYH Analysis in FAP Patients: A Novel Mutation in APC Gene and Genotype-Phenotype Correlation
Genes
Genetics
No Human Tryptophan Hydroxylase-2 Gene R441H Mutation in a Large Cohort of Psychiatric Patients and Control Subjects
Biological Psychiatry
Biological Psychiatry
A Novel Nonsense Mutation of the PEPD Gene in a Japanese Patient With Prolidase Deficiency
Journal of Human Genetics
Genetics
Frequency and Clinical Significance of NF1 Mutation in Lung Adenocarcinomas From East Asian Patients
International Journal of Cancer
Cancer Research
Oncology
