Associated Papers
In utero tumor development and identification of CTNNB1 mutation in a newborn case of ossifying renal tumor of infancy.
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Pediatric Blood & Cancer, 2024
38217079 (PubMed )
Supplement: supplement_1.xlsx › SNVs
Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion.
Zhou C et al.
Chinese Medical Journal, 2023
37667433 (PubMed )
Supplement: cm9-136-2107-s002.xls › SHEET
Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued via in vivo gene editing.
Chen M et al.
Signal Transduction and Targeted Therapy, 2022
34980881 (PubMed )
Supplement: 41392_2021_710_MOESM2_ESM.xlsx › P7602-S4
Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.
Qin Z et al.
Frontiers in Genetics, 2020
32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_3
Neurogenetic analysis of childhood disintegrative disorder.
Gupta AR et al.
Molecular Autism, 2017
28392909 (PubMed )
Supplement: 13229_2017_133_MOESM2_ESM.xlsx › Table_S2
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