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American Journal of Medical Genetics. Part A|February 22, 2023
Phenotypic variability and gastrointestinal manifestations/interventions for growth in NAA10-related neurodevelopmental syndromeKatherine Sandomirsky, Elaine Marchi, Maureen Gavin, et al.
Pediatric Cardiology|April 28, 2025
The Cardiovascular Manifestations and Management Recommendations for Ogden SyndromeRikhil Makwana, Rahi Patel, Rosemary O'Neill, et al.
Medrxiv : the Preprint Server for Health Sciences|April 16, 2025
The Cardiovascular Manifestations and Management Recommendations for Ogden SyndromeRikhil Makwana, Rahi Patel, Rosemary O'Neill, et al.
American Journal of Medical Genetics. Part A|May 15, 2024
Longitudinal adaptive behavioral outcomes in Ogden syndrome by seizure status and therapeutic interventionRikhil Makwana, Carolina Christ, Elaine Marchi, et al.
Medrxiv : the Preprint Server for Health Sciences|April 8, 2024
Longitudinal Adaptive Behavioral Outcomes in Ogden Syndrome by Seizure Status and Therapeutic InterventionRikhil Makwana, Carolina Christ, Elaine Marchi, et al.
American Journal of Medical Genetics. Part A|February 24, 2025
Natural History of NAA15 -Related Neurodevelopmental Disorder Through AdolescenceRikhil Makwana, Carolina Christ, Rahi Patel, et al.
Medrxiv : the Preprint Server for Health Sciences|May 7, 2024
A Natural History of NAA15 -related Neurodevelopmental Disorder Through AdolescenceRikhil Makwana, Carolina Christ, Rahi Patel, et al.
American Journal of Medical Genetics. Part A|November 15, 2023
Ocular manifestations in a cohort of 43 patients with KBG syndromeDrake C Carter, Ola Kierzkowska, Kathleen Sarino, et al.
American Journal of Medical Genetics. Part A|May 25, 2023
Documentation and prevalence of prenatal and neonatal outcomes in a cohort of individuals with KBG syndromeOla Kierzkowska, Kathleen Sarino, Drake Carter, et al.
American Journal of Medical Genetics. Part A|May 29, 2025
Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With MicrocephalyRuhi Shah, Neora Shifrin, Mary Ellen Keogh, et al.
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