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The Journal of Clinical Endocrinology and Metabolism|August 1, 1990
Genetic abnormalities in sporadic parathyroid adenomasE Friedman, A E Bale, S J Marx, et al.Clinical Chemistry|August 5, 2006
A multiplex assay for the detection and mapping of complex glycerol kinase deficiencyRoger D Klein, Erik C Thorland, Patrick R Gonzales, et al.Human Mutation|February 22, 2002
Low frequency of recurrent BRCA1 and BRCA2 mutations in SpainGemma Llort, Carmen Yagüe Muñoz, Mercè Peris Tuser, et al.Journal of Endocrinological Investigation|March 1, 1991
Tight linkage of the human c-erbA beta gene with the syndrome of generalized thyroid hormone resistance is present in multiple kindredsH G Fein, K D Burman, Y Y Djuh, et al.American Journal of Human Genetics|July 1, 1993
Molecular definition of a chromosome 9p21 germ-line deletion in a woman with multiple melanomas and a plexiform neurofibroma: implications for 9p tumor-suppressor gene(s)E M Petty, L H Gibson, J W Fountain, et al.American Journal of Medical Genetics|March 31, 1997
Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndromeV E Kimonis, A M Goldstein, B Pastakia, et al.American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|June 27, 2018
TREX1 Mutation Causing Autosomal Dominant Thrombotic Microangiopathy and CKD-A Novel PresentationAshima Gulati, Allen E Bale, Daniel J Dykas, et al.Aorta (Stamford, Conn.)|August 7, 2018
Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2018 Update and Clinical ImplicationsAdam J Brownstein, Valentyna Kostiuk, Bulat A Ziganshin, et al.Proceedings of the National Academy of Sciences of the United States of America|August 30, 1994
Nephrogenic diabetes insipidus: an X chromosome-linked dominant inheritance pattern with a vasopressin type 2 receptor gene that is structurally normalE Friedman, A E Bale, E Carson, et al.Molecular Endocrinology (Baltimore, Md.)|December 1, 1988
Tight linkage between the syndrome of generalized thyroid hormone resistance and the human c-erbA beta geneS J Usala, A E Bale, N Gesundheit, et al.Pageof 13