Associated Papers
Alagille Syndrome: Unraveling the Complexities of Genotype-Phenotype Relationships and Exploring Avenues for Improved Diagnosis and Treatment.
Sharma P et al.
Cell Biology International, 2025
JAG1 and THBS2 Mutations in a Child Presenting With Incomplete Alagille Syndrome.
Almes M et al.
Jpgn Reports, 2023
Dose Dependence Effect in Biallelic WNT10A Variant-Associated Tooth Agenesis Phenotype.
Liu H et al.
Diagnostics (basel, Switzerland), 2022
36553094 (PubMed )
Supplement: diagnostics-12-03087-s001.zip › Table_S1_.pdf
Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.
Almes M et al.
Diagnostics (basel, Switzerland), 2022
35626323 (PubMed )
Supplement: diagnostics-12-01169-s001.zip › diagnostics-1660539-supplementary.pdf
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
31165590 (PubMed )
Supplement: MGG3-7-e00748-s004.xlsx › Variants_information
Exome and copy number variation analyses of Mayer-Rokitansky-Küster- Hauser syndrome.
Takahashi K et al.
Human Genome Variation, 2018
30302266 (PubMed )
Supplement: 41439_2018_28_MOESM5_ESM.xlsx › Sheet1
Select a paper to view details