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The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association|May 12, 2018
An Algorithm for the Assessment of Facial Asymmetry in Children With Focus on Etiology and TreatmentTara L Wenger, Emily R Gallagher, Elizabeth J Bhoj
American Journal of Medical Genetics. Part A|October 5, 2020
Clinical variability of TUBB-associated disorders: Diagnosis through reanalysisDong Li, Kaitlyn M Shen, Elaine H Zackai, et al.
Eye (London, England)|July 17, 2026
Embryodysgenesis of the Lids and OrbitJames A Katowitz, Yasaman Ataei, Elizabeth J Bhoj, et al.
European Journal of Medical Genetics|March 15, 2020
Imprinted genes in clinical exome sequencing: Review of 538 cases and exploration of mouse-human conservation in the identification of novel human disease lociElizabeth J Bhoj, Farrah Rajabi, Samuel W Baker, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 1, 2020
Mapping RNA splicing variations in clinically accessible and nonaccessible tissues to facilitate Mendelian disease diagnosis using RNA-seqJoseph K Aicher, Paul Jewell, Jorge Vaquero-Garcia, et al.
American Journal of Medical Genetics. Part A|July 4, 2020
A homozygous truncating NALCN variant in two Afro-Caribbean siblings with hypotonia and dolichocephalyOmotayo Ope, Elizabeth J Bhoj, Beverly Nelson, et al.
Molecular Cytogenetics|February 17, 2009
MODY-like diabetes associated with an apparently balanced translocation: possible involvement of MPP7 gene and cell polarity in the pathogenesis of diabetesElizabeth J Bhoj, Stefano Romeo, Marco G Baroni, et al.
The Journal of Pediatrics|May 16, 2022
Contribution of Mendelian Disorders in a Population-Based Pediatric Neurodegeneration CohortRose Guo, Frank D Mentch, Dong Li, et al.
American Journal of Medical Genetics. Part A|December 9, 2021
Further supporting SMARCC2-related neurodevelopmental disorder through exome analysis and reanalysis in two patientsDong Li, Helen Downes, Cuiping Hou, et al.
American Journal of Medical Genetics. Part A|October 17, 2015
Aortic coarctation and carotid artery aneurysm in a patient with Hardikar syndrome: Cardiovascular implications for affected individualsKaitlin M Ryan, Alexander R Ellis, Reem Raafat, et al.
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