Associated Papers
Fetal phenotypes of Mendelian disorders: A descriptive study from India.
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Prenatal Diagnosis, 2022
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM19_ESM.xlsx › Supplementary_Data_16
Co-Occurrence of Leber Congenital Amaurosis and Meckel Syndrome Type 1 in a Fetus: Is There a Lesson to Be Learned?
Tallapaka K et al.
Molecular Syndromology, 2019
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?
Tallila J et al.
Human Mutation, 2009
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