|1.||Braverman, Nancy: 3 articles (08/2013 - 12/2004)|
|2.||Matos-Miranda, Claudia: 2 articles (08/2013 - 04/2008)|
|3.||Del Gaudio, Daniela: 1 article (04/2014)|
|4.||Bober, Michael B: 1 article (04/2014)|
|5.||Acar, Gül Ozbilen: 1 article (04/2014)|
|6.||Hopkin, Robert J: 1 article (04/2014)|
|7.||Henrickson, Michael: 1 article (04/2014)|
|8.||El Hallek, Moussa: 1 article (04/2014)|
|9.||Weaver, K Nicole: 1 article (04/2014)|
|10.||Sund, Kristen L: 1 article (04/2014)|
|1.||Chondrodysplasia Punctata (Stippled Epiphyses)
03/01/2003 - "X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability."
02/01/2001 - "It was suspected that the patient was suffering from chondrodysplasia punctata because of a loss of the arylsulfatase E (ARSE) gene. "
03/01/1998 - "Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata."
06/01/1997 - "These include the gene encoding arylsulfatase E, which is involved in X-linked recessive chondrodysplasia punctata, a disorder of cartilage and bone development. "
03/01/2003 - "X-linked chondrodysplasia punctata (CDPX1), due to mutations of the arylsulfatase E (ARSE) gene, is a congenital disorder characterized by abnormalities in cartilage and bone development. "
|2.||Kallmann Syndrome (Kallmann's Syndrome)
|3.||Spinal Stenosis (Stenosis, Spinal)
|5.||Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders)
|1.||brachytelephalangic Chondrodysplasia punctata
|2.||Steryl-Sulfatase (Steroid Sulfatase)
|5.||Cytidine Diphosphate (CDP)