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Human mutation, ISSN 1059-7794, 2016, Volume 37, Issue 11, pp. 1162 - 1179
Journal Article
Journal Article
Journal Article
Nature genetics, ISSN 1061-4036, 2014, Volume 46, Issue 8, pp. 815 - 817
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 05/2016, Volume 53, Issue 5, pp. 330 - 337
Journal Article
Human mutation, ISSN 1059-7794, 2011, Volume 32, Issue 4, pp. 407 - 414
Journal Article
Nature genetics, ISSN 1061-4036, 2014, Volume 46, Issue 2, pp. 107 - 115
Journal Article
JOURNAL OF MEDICAL GENETICS, ISSN 0022-2593, 05/2016, Volume 53, Issue 5, pp. 330 - 337
Background The combination of developmental delay, facial characteristics, hearing loss and abnormal fat distribution in the distal limbs is known as Pierpont... 
COMPLEX | ACTIVATION | Molecular genetics | TRANSCRIPTIONAL REPRESSION | DEVELOPMENTAL DELAY | PLANTAR LIPOMATOSIS | DELETION | INTELLECTUAL DISABILITY | NERVOUS-SYSTEM LYMPHOMAS | FRAMEWORK | Genetics | DNA-SEQUENCING DATA | Psychiatry
Journal Article
Journal Article
Familial Cancer, ISSN 1389-9600, 10/2018, Volume 17, Issue 4, pp. 507 - 515
Lynch syndrome (LS) patients are at high risk of developing colorectal cancer (CRC). Phenotypic variability might in part be explained by common susceptibility... 
SNP | Genetics(clinical) | b_open_article_in_toll_access_journal | Colorectal cancer | PMS2 | Genetics | Oncology | Cancer Research | Modifiers | Cancer risk | Lynch syndrome
Journal Article
Familial Cancer, ISSN 1389-9600, 10/2018, Volume 17, Issue 4, p. 507
Lynch syndrome (LS) patients are at high risk of developing colorectal cancer (CRC). Phenotypic variability might in part be explained by common susceptibility... 
SNP | Genetics(clinical) | Colorectal cancer | PMS2 | Genetics | Oncology | Cancer Research | Modifiers | Cancer risk | Lynch syndrome
Journal Article