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Birth Defects Research. Part A, Clinical and Molecular Teratology|February 8, 2006
Cleidocranial dysplasia with severe parietal bone dysplasia: C-terminal RUNX2 mutationsMichael L Cunningham, Marianne L Seto, Anne V Hing, et al.
Archives of Otolaryngology--Head & Neck Surgery|June 17, 2009
Characterization of congenital anomalies in individuals with choanal atresiaT Andrew Burrow, Howard M Saal, Alessandro de Alarcon, et al.
American Journal of Medical Genetics. Part A|August 6, 2014
A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasiaSophia B Hufnagel, K Nicole Weaver, Robert B Hufnagel, et al.
Molecular Genetics and Genomics : MGG|June 20, 2023
RNA sequencing reveals a complete picture of a homozygous missense variant in a patient with VPS13D movement disorder: a case report and review of the literatureElizabeth K Baker, Jingfen Han, William A Langley, et al.
American Journal of Medical Genetics. Part A|June 20, 2012
Tetrasomy 15q25.2→qter identified with SNP microarray in a patient with multiple anomalies including complex cardiovascular malformationJaya K George-Abraham, Sarah L Zimmerman, Robert B Hinton, et al.
Molecular Cytogenetics|August 25, 2024
Complex genomic rearrangements of the Y chromosome in a premature infantStephanie A Balow, Alyxis G Coyan, Nicki Smith, et al.
European Journal of Medical Genetics|November 15, 2020
CHARGE syndrome in the era of molecular diagnosis: Similar outcomes in those without coloboma or choanal atresiaBrittany N Simpson, Divya Khattar, Howard Saal, et al.
Journal of Medical Genetics|September 2, 2025
Long-term efficacy of migalastat in females with Fabry diseaseStaci Kallish, Antonia Camporeale, Robert J Hopkin, et al.
Prenatal Diagnosis|October 28, 2011
Severe cervical scoliosis in the fetusCarlos E Prada, Elizabeth A Sellars, Christine G Spaeth, et al.
Prenatal Diagnosis|February 28, 2012
Posterior fossa anomalies diagnosed with fetal MRI: associated anomalies and neurodevelopmental outcomesKyla J Patek, Beth M Kline-Fath, Robert J Hopkin, et al.
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