Associated Papers
Comprehensive Assessment of Indian Variations in the Druggable Kinome Landscape Highlights Distinct Insights at the Sequence, Structure and Pharmacogenomic Stratum.
Panda G et al.
Frontiers in Pharmacology, 2022
35865963 (PubMed )
Supplement: Table12.xlsx › Sheet1
Trends of genetic screening in patients with pheochromocytoma and paraganglioma: 15-year experience in a high-volume tertiary referral center.
Asban A et al.
Journal of Surgical Oncology, 2018
Consensus: a framework for evaluation of uncertain gene variants in laboratory test reporting.
Crockett DK et al.
Genome Medicine, 2012
22640420 (PubMed )
Supplement: gm347-S2.DOC
RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients.
So MT et al.
Plos One, 2011
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII-
[Molecular biology, basic research and diagnosis of Hirschsprung's disease].
Martucciello G et al.
Der Pathologe, 2007
Intrinsic susceptibility to misfolding of a hot-spot for Hirschsprung disease mutations in the ectodomain of RET.
Kjaer S et al.
Human Molecular Genetics, 2003
Two distinct mutations of the RET receptor causing Hirschsprung's disease impair the binding of signalling effectors to a multifunctional docking site.
Geneste O et al.
Human Molecular Genetics, 1999
Hirschsprung's disease as a neurochristopathy.
Martucciello G
Pediatric Surgery International, 1997
Frequency of RET mutations in long- and short-segment Hirschsprung disease.
Seri M et al.
Human Mutation, 1997
Select a paper to view details