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The Journal of Craniofacial Surgery|September 7, 2010
Binder phenotype: associated findings and etiologic mechanismsKim M Keppler-Noreuil, Tanner J Wenzel
Molecular Genetics & Genomic Medicine|April 7, 2025
A Retrospective Study of Infant and Maternal Risk Factors in LUMBAR SyndromeDenise W Metry, Dawn H Siegel, Kim M Keppler-Noreuil
American Journal of Medical Genetics. Part A|May 26, 2017
37th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2016 Annual MeetingKim M Keppler-Noreuil, Julian A Martinez-Agosto, Louanne Hudgins, et al.
Orphanet Journal of Rare Diseases|July 9, 2021
A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestationsGuillaume Canaud, Adrienne M Hammill, Denise Adams, et al.
American Journal of Medical Genetics. Part A|June 20, 2017
Characterization of thrombosis in patients with Proteus syndromeKim M Keppler-Noreuil, Jay N Lozier, Julie C Sapp, et al.
Birth Defects Research|September 20, 2018
Descriptive epidemiology of cerebellar hypoplasia in the National Birth Defects Prevention StudyMeredith M Howley, Kim M Keppler-Noreuil, Christopher M Cunniff, et al.
American Journal of Medical Genetics. Part A|April 6, 2011
Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy)Kim M Keppler-Noreuil, Margaret P Adam, Judy Welch, et al.
Dermatologic Clinics|November 29, 2016
Mosaic Disorders of the PI3K/PTEN/AKT/TSC/mTORC1 Signaling PathwayNeera Nathan, Kim M Keppler-Noreuil, Leslie G Biesecker, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 7, 2019
A dyadic genotype-phenotype approach to diagnostic criteria for Proteus syndromeJulie C Sapp, Anna Buser, Jasmine Burton-Akright, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 19, 2016
Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategiesKim M Keppler-Noreuil, Victoria E R Parker, Thomas N Darling, et al.
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