Associated Papers
Two Siblings With Al Kaissi Syndrome: Clinical, Radiological, and Molecular Characterization of Compound Heterozygous CDK10 Variants.
Yigit ZM et al.
American Journal of Medical Genetics. Part A, 2026
40960173 (PubMed )
Supplement: supplement_1.xlsx › Sayfa1
A pair of twins with multicystic dysplastic kidney and hydrocephalus caused by a novel homozygous mutation in SPATA33 and CDK10.
Jia Y et al.
Qjm : Monthly Journal of the Association of Physicians, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_8
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.
Boonsawat P et al.
Npj Genomic Medicine, 2022
35906228 (PubMed )
Supplement: 41525_2022_316_MOESM3_ESM.xlsx › Supplementary_Table_4b
Cilia kinases in skeletal development and homeostasis.
Abraham SP et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2022
Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype-phenotype correlations.
Smogavec M et al.
European Journal of Human Genetics : Ejhg, 2022
CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.
Windpassinger C et al.
American Journal of Human Genetics, 2017
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