Associated Papers
Evaluation of FGFR targeting in breast cancer through interrogation of patient-derived models.
Chew NJ et al.
Breast Cancer Research : Bcr, 2021
34344433 (PubMed )
Supplement: 13058_2021_1461_MOESM7_ESM.xlsx › KCC_P_4043_Tumour
Novel Compound Heterozygous Variants in MKS1 Leading to Joubert Syndrome.
Luo M et al.
Frontiers in Genetics, 2020
33193692 (PubMed )
Supplement: Table_1.xlsx › Sheet1
Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.
Chen X et al.
Bmc Medical Genetics, 2019
31146700 (PubMed )
Supplement: 12881_2019_813_MOESM1_ESM.xls › CHD7_ChenXiang_query_Report_Fil
Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with Bardet-Biedl syndrome.
Qi Z et al.
Science China. Life Sciences, 2017
Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy.
Kang HG et al.
Experimental & Molecular Medicine, 2016
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