Jeremy Schwartzentruber
European Bioinformatics Institute
86 papers found
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Bioinactive ACTH causing glucocorticoid deficiency.
UploadRecurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma
Download from www.nature.comMutations inTMEM231cause Joubert syndrome in French Canadians
Download from jmg.bmj.comHaploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome
Download from www.ncbi.nlm.nih.govMutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population
Download from www.ncbi.nlm.nih.govMutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome
Download from www.ncbi.nlm.nih.govMutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome
Download from doi.orgClonal Selection Drives Genetic Divergence of Metastatic Medulloblastoma
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