Refreshing results…
Tetrasomy and pentasomy of the X chromosome
UploadNasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions
Download from www.nature.comNosology and Classification of Genetic Skeletal Disorders: 2010 Revision
Download from doi.orgObjective assessment of nasality in Flemish adults with neurofibromatosis type 1
Download from hdl.handle.netGenotype-phenotype analysis of the branchio-oculo-facial syndrome
UploadPhenotype and natural history in Marshall-Smith syndrome.
Download from onlinelibrary.wiley.comMesomelia-Synostoses Syndrome Results from Deletion of SULF1 and SLCO5A1 Genes at 8q13
Download from doi.orgHaploinsufficiency of TAB2 Causes Congenital Heart Defects in Humans
Download from www.ncbi.nlm.nih.govVoice characteristics in adults with neurofibromatosis type 1
Download from hdl.handle.netDe novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
Download from www.nature.comTemple-Baraitser syndrome: a rare and possibly unrecognized condition.
Download from www.researchgate.netMissing publications? Search for publications with a matching author name.