Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Estimating the Prevalence of Autosomal Recessive Neuromuscular Diseases in the Korean Population.
Kim SH et al.
Journal of Korean Medical Science, 2025
40390582 (PubMed )
Supplement: jkms-40-e68-s003.xls › jkms-40-e68-s003
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
39456122 (PubMed )
Supplement: CTM2-14-e70074-s003.xlsx › Table_S3
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2
Clinical, pathological and genetic features and follow-up of 110 patients with late-onset MADD: a single-center retrospective study.
Wen B et al.
Human Molecular Genetics, 2022
ETF dehydrogenase advances in molecular genetics and impact on treatment.
Missaglia S et al.
Critical Reviews in Biochemistry and Molecular Biology, 2021
Hepatic Presentation of Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Case Report and Systematic Review.
Siano MA et al.
Frontiers in Pediatrics, 2021
Clinical Presentations and Genetic Characteristics of Late-Onset MADD Due to ETFDH Mutations in Five Patients: A Case Series.
Tang Z et al.
Frontiers in Neurology, 2021
Genetic Aberration Analysis in Thai Colorectal Adenoma and Early-Stage Adenocarcinoma Patients by Whole-Exome Sequencing.
Intarajak T et al.
Cancers, 2019
31336886 (PubMed )
Supplement: cancers-11-00977-s001.zip › supplementary_file › supplementary_table_2.xlsx › somatic_normal_tumor
Severe sensory neuropathy in patients with adult-onset multiple acyl-CoA dehydrogenase deficiency.
Wang Z et al.
Neuromuscular Disorders : Nmd, 2016
Riboflavin-responsive multiple Acyl-CoA dehydrogenation deficiency in 13 cases, and a literature review in mainland Chinese patients.
Zhu M et al.
Journal of Human Genetics, 2014
Two novel mutations in phenylalanine hydroxylase gene and in vitro expression analysis on mutation Arg252Gln.
Zhang M et al.
Chinese Medical Sciences Journal = Chung-kuo I Hsueh K'o Hsueh Tsa Chih, 1997
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