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Journal Article
Nucleic Acids Research, ISSN 0305-1048, 2006, Volume 34, Issue 9, pp. 2558 - 2569
Journal Article
Plos One, ISSN 1932-6203, 2017, Volume 12, p. e0185607
OBJECTIVE: Overall and splice specific expression of Spleen Tyrosine Kinase (SYK) has been posed as a marker predicting both poor and favorable outcome in... 
Journal Article
Nature Genetics, ISSN 1061-4036, 2012, Volume 44, Issue 7, pp. 793 - 796
Journal Article
Nature Communications, ISSN 2041-1723, 2016, Volume 7
Structural variation (SV) represents a major source of differences between individual human genomes and has been linked to disease phenotypes. However, the... 
Journal Article
Nucleic Acids Research, ISSN 0305-1048, 2006, Volume 34, Issue 17, pp. e115 - e115
Journal Article
Annals of the Rheumatic Diseases, ISSN 0003-4967, 2014, Volume 73, pp. 455 - 461
OBJECTIVES: Autoinflammatory disorders are disorders of the innate immune system. Standard genetic testing provided no correct diagnosis in a female patient... 
Journal Article
Genome Research, ISSN 1088-9051, 2015, Volume 25, pp. 792 - 801
Small insertions and deletions (indels) and large structural variations (SVs) are major contributors to human genetic diversity and disease. However, mutation... 
Journal Article
Genome Research, ISSN 1088-9051, 2015, Volume 25, Issue 6, pp. 792 - 801
Small insertions and deletions (indels) and large structural variations (SVs) are major contributors to human genetic diversity and disease. However, mutation... 
Journal Article
Journal Article
Fertility and Sterility, ISSN 0015-0282, 2012, Volume 97, Issue 1, p. 141
Journal Article
Fertility and Sterility, ISSN 0015-0282, 2012, Volume 97, Issue 1, pp. 141 - U205
Objective: To evaluate the significance of NR5A1 mutations in a large, well-phenotyped cohort of women with primary ovarian insufficiency (POI). Mutations in... 
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2012, Volume 20, Issue 7, pp. 748 - 753
Journal Article