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Clinical Genetics|November 3, 2017
Homozygous mutation in ELMO2 may cause Ramon syndromeC Mehawej, A Hoischen, R A Farah, et al.
Nucleic Acids Research|June 28, 2005
GeneSeeker: extraction and integration of human disease-related information from web-based genetic databasesM A van Driel, K Cuelenaere, P P C W Kemmeren, et al.
Clinical Genetics|February 25, 2009
Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved?S Ben-Shachar, M Khajavi, M A Withers, et al.
Tissue Engineering|December 3, 2002
Release of bioactive transforming growth factor beta(3) from microtextured polymer surfaces in vitro and in vivoJ A T C Parker, G Brunner, X F Walboomers, et al.
The Journal of Trauma|August 1, 1989
A reassessment of the role of arteriography in penetrating proximity extremity trauma: a prospective studyE R Frykberg, J M Crump, F S Vines, et al.
European Journal of Human Genetics : EJHG|February 27, 2021
The impact of unsolicited findings in clinical exome sequencing, a qualitative interview studyVyne van der Schoot, Simone J Viellevoije, Femke Tammer, et al.
Patient Education and Counseling|November 17, 2023
Exploring uncertainties regarding unsolicited findings in genetic testingVyne van der Schoot, Eline van der Meer, Marij A Hillen, et al.
The Journal of Clinical Endocrinology and Metabolism|November 1, 1996
An inactivating mutation of the luteinizing hormone receptor causes amenorrhea in a 46,XX femaleS P Toledo, H G Brunner, R Kraaij, et al.
Genetic Counseling (Geneva, Switzerland)|May 3, 2001
Metabolic studies in older mentally retarded patients: significance of metabolic testing and correlation with the clinical phenotypeG J Van Buggenhout, J M Trijbels, R Wevers, et al.
Blood|April 15, 1994
An endogenous glycosylphosphatidylinositol-specific phospholipase D releases basic fibroblast growth factor-heparan sulfate proteoglycan complexes from human bone marrow culturesG Brunner, C N Metz, H Nguyen, et al.
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