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G3 (Bethesda, Md.)|September 28, 2019
Elucidating the Molecular Determinants of Aβ Aggregation with Deep Mutational ScanningVanessa E Gray, Katherine Sitko, Floriane Z Ngako Kameni, et al.American Journal of Medical Genetics. Part A|May 20, 2011
A deletion 13q34/duplication 14q32.2-14q32.33 syndrome diagnosed 50 years after neonatal presentation as infantile hypercalcemiaPhilip D Pallister, Adam B Pallister, Sarah South, et al.American Journal of Medical Genetics|December 8, 1998
Previously undescribed syndrome of spondylometaphyseal dysplasia, osteocartilaginous metaplasia of long bones, and progressive osteolysis of distal phalangesW R Osebold, A K Poznanski, J M Opitz, et al.American Journal of Medical Genetics. Part A|May 8, 2013
Elements of morphology: standard terminology for the external genitaliaRaoul C M Hennekam, Judith E Allanson, Leslie G Biesecker, et al.European Journal of Pediatrics|April 6, 1976
Studies of malformation syndromes of man XXXXI B: nosologic studies in the Hanhart and the Möbius syndromeJ Herrmann, P D Pallister, E F Gilbert, et al.Journal of Medical Genetics|September 1, 1975
A syndrome of hypohidrotic ectodermal dysplasia with normal teeth, peculiar facies, pigmentary disturbances, psychomotor and growth retardation, bilateral nuclear cataract, and other signsN Freire-Maia, V A Fortes, L C Pereira, et al.The Journal of Clinical Endocrinology and Metabolism|April 1, 1983
Nonsalt-losing congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency with normal glomerulosa functionS Pang, L S Levine, E Stoner, et al.American Journal of Medical Genetics|June 1, 1982
Studies of malformation syndromes of humans XXXIIIC: the FG syndrome - further studies on three affected individuals from the FG familyJ M Opitz, E G Kaveggia, W N Adkins, et al.American Journal of Medical Genetics. Part A|December 15, 2006
Nuchal cystic hygroma in five fetuses from 1819 to 1826 in the Meckel-anatomical collections at the University of Halle, GermanyLuminita Göbbel, Rüdiger Schultka, Rudyard Klunker, et al.Journal of Medical Genetics|July 11, 2006
The cardiofaciocutaneous syndromeA Roberts, J Allanson, S K Jadico, et al.Pageof 34