Associated Papers
Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.
Bateman NW et al.
Iscience, 2022
35036865 (PubMed )
Supplement: mmc2.xlsx › SupplementalTable1A
Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda A et al.
Plos One, 2022
35486589 (PubMed )
Supplement: pone.0267751.s001.xls › SIDS3-full
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Skowron MA et al.
Scientific Reports, 2019
31597922 (PubMed )
Supplement: 41598_2019_50891_MOESM11_ESM.xlsx › Unique_in_J82-LTT
A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family.
Sher M et al.
The International Journal of Neuroscience, 2019
30892110 (PubMed )
Supplement: supplement_1.xlsx › _Variants_305__Sequence_Ontolo
Integrated Somatic and Germline Whole-Exome Sequencing Analysis in Women with Lung Cancer after a Previous Breast Cancer.
Coco S et al.
Cancers, 2019
30925779 (PubMed )
Supplement: cancers-11-00441-s001.zip › cancers-452240-Supplementary › Table_S3.xlsx › Table_S3
Bivariate genome-wide association meta-analysis of pediatric musculoskeletal traits reveals pleiotropic effects at the SREBF1/TOM1L2 locus.
Medina-Gomez C et al.
Nature Communications, 2017
Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion.
Vilboux T et al.
Plos One, 2011
Smith-Magenis syndrome.
Elsea SH et al.
European Journal of Human Genetics : Ejhg, 2008
New developments in Smith-Magenis syndrome (del 17p11.2).
Gropman AL et al.
Current Opinion in Neurology, 2007
Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum.
Girirajan S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2006
RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions.
Girirajan S et al.
Journal of Medical Genetics, 2005
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