基本信息
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Bio
Clinical Interests
Medical Genetics, Orthopedic Genetic Disorders, Dwarfing Conditions, Craniofacial Disorders.
Research Interests
Gene discovery in cleft lip and palate, Role of mutant cartilage oligomeric matrix protein (MT-COMP) in pseudoachondroplasia.
Research Interests
Papers共 241 篇Author StatisticsCo-AuthorSimilar Experts
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medRxiv : the preprint server for health sciences (2024)
Lorena Maili, Oscar E Ruiz,Philip Kahan,Frankie Chiu, Stephen T Larson,S Shahrukh Hashmi,Jacqueline T Hecht,George T Eisenhoffer
Lorena Maili, Oscar E. Ruiz,Philip H. Kahan,Frankie Chiu, Stephen T. Larson,S. Shahrukh Hashmi,Jacqueline T. Hecht,George T. Eisenhoffer
DISEASE MODELS & MECHANISMSno. 6 (2023)
Journal of neurosurgery. Pediatricsno. 6 (2023): 649-656
Genetics in medicine : official journal of the American College of Medical Geneticsno. 7 (2023): 100845-100845
Genetics in Medicine Openno. 1 (2023): 100533-100533
JOURNAL OF NEUROSURGERY-PEDIATRICSno. 6 (2023): 649-656
Human Genetics and Genomics Advancesno. 4 (2023): 100234-100234
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