Associated Papers
Childhood-onset ataxia with dystonia: expanding the spectrum of VWA3B-related disorders.
Adarsha N et al.
Journal of Human Genetics, 2026
Complex Diagnostics of Non-Specific Intellectual Developmental Disorder.
Levchenko O et al.
International Journal of Molecular Sciences, 2022
35887114 (PubMed )
Supplement: ijms-23-07764-s001.zip › Supplementary_Table_S1.xlsx › General
Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors.
Tang CSM et al.
Jci Insight, 2022
34905512 (PubMed )
Supplement: jciinsight-7-152198-s012.xlsx › SupplTable7._Rec_CADD20
Hyperammonemia after capecitabine associated with occult impairment of the urea cycle.
Chu G et al.
Cancer Medicine, 2019
30977266 (PubMed )
Supplement: CAM4-8-1996-s001.pdf
Aggressive natural killer-cell leukemia mutational landscape and drug profiling highlight JAK-STAT signaling as therapeutic target.
Dufva O et al.
Nature Communications, 2018
29674644 (PubMed )
Supplement: 41467_2018_3987_MOESM5_ESM.xlsx › ANKL3
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
28600779 (PubMed )
Supplement: 439_2017_1821_MOESM1_ESM.xlsx › Sheet2
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