2006
A Multiplex Assay for the Detection and Mapping of Complex Glycerol Kinase Deficiency
Klein RD, Thorland EC, Gonzales PR, Beck PA, Dykas DJ, McGrath JM, Bale AE. A Multiplex Assay for the Detection and Mapping of Complex Glycerol Kinase Deficiency. Clinical Chemistry 2006, 52: 1864-1870. PMID: 16887896, DOI: 10.1373/clinchem.2006.072397.Peer-Reviewed Original Research
1991
Relationship between head circumference and height in normal adults and in the nevoid basal cell carcinoma syndrome and neurofibromatosis type I
Bale S, Amos C, Parry D, Bale A. Relationship between head circumference and height in normal adults and in the nevoid basal cell carcinoma syndrome and neurofibromatosis type I. American Journal Of Medical Genetics 1991, 40: 206-210. PMID: 1910262, DOI: 10.1002/ajmg.1320400217.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedBasal Cell Nevus SyndromeBody HeightCephalometryFemaleHumansMaleMiddle AgedNeurofibromatosis 1Reference ValuesWhite PeopleConceptsNevoid basal cell carcinoma syndromeBasal cell carcinoma syndromeOccipitofrontal circumferenceCarcinoma syndromeNeurofibromatosis type IHead sizeCaucasian manHead circumferenceProband statusRelative macrocephalyNF1 casesNormal adultsSyndromeRelative abnormalitiesSyndrome delineationType ICircumferenceProbandsNF1Macrocephaly syndromeHeight ratio