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Molecular Genetics and Metabolism|November 17, 2016
An MRspec database query and visualization engine with applications as a clinical diagnostic and research toolFilip Miscevic, Justin Foong, Benjamin Schmitt, et al.
The Journal of International Advanced Otology|April 14, 2022
Cholesteatoma in Children with Sotos SyndromeColin Gerald Leonard, Sebastian Ranguis, Sharon Lynn Cushing, et al.
Neurology|January 15, 2025
Child Neurology: Severe GMPPB-Related Congenital Muscular Dystrophy With Rapidly Progressive Encephalopathy Leading to Infantile DeathJoseph Dubé, Susan Blaser, Anne-Marie Guerguerian, et al.
European Journal of Pediatrics|November 9, 2002
Severe cleidocranial dysplasia can mimic hypophosphatasiaSheila Unger, Etienne Mornet, Stefan Mundlos, et al.
AJNR. American Journal of Neuroradiology|May 30, 2024
Imaging Findings and MRI Patterns in a Cohort of 18q Chromosomal AbnormalitiesPrateek Malik, Helen Branson, Grace Yoon, et al.
Pediatric Radiology|October 14, 2004
Morning glory disc anomaly, midline cranial defects and abnormal carotid circulation: an association worth looking forBoon Long Quah, Jill Hamilton, Susan Blaser, et al.
European Journal of Human Genetics : EJHG|April 6, 2017
Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTBAlan O'Brien, Christian R Marshall, Susan Blaser, et al.
Pediatrics|March 26, 2014
Fetal onset ventriculomegaly and subependymal cysts in a pyridoxine dependent epilepsy patientShailly Jain-Ghai, Navin Mishra, Cecil Hahn, et al.
Nature Chemistry|October 25, 2014
Switching on the fluorescence of 2-aminopurine by site-selective microhydrationSimon Lobsiger, Susan Blaser, Rajeev K Sinha, et al.
The Journal of Urology|January 13, 2006
Making sense of prostate specific antigen: improving its predictive value in patients undergoing prostate biopsyRobert K Nam, Ants Toi, John Trachtenberg, et al.
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