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Current Opinion in Pediatrics|November 25, 2003
Controversies surrounding Jarcho-Levin syndromeAlberto S Cornier, Norman Ramirez, Simón Carlo, et al.
Cureus|April 22, 2021
Rapid-Onset Obesity Due to Impulsive Food-Seeking Behavior in a Puerto Rican Child With CHRNA7 15q13.3 MicrodeletionBrian L Jiménez, Simón Carlo, Wilfredo De Jesús Rojas
Cureus|September 14, 2023
Homozygous TRPV4 Mutation Broadens the Phenotypic Spectrum of Congenital Spinal Muscular Atrophy and Arthrogryposis: A Case ReportElyette Lugo, Eric Graulau, Edwardo Ramos Cortes, et al.
Cureus|September 9, 2024
Neurodevelopmental Disorders and the Mystery of the Genes Involved: A Case Report of a BICRA Heterozygous Mutation Identified in Autism Spectrum DisorderMaría A Gratacós Arenas, Carolina Soler Portilla, Simón Carlo, et al.
Cureus|June 10, 2024
MED13 Gene Mutation Related to Autism Spectrum Disorder: A Case ReportMarlene D Rivera, Stephanie N Aponte, Felix Rivera, et al.
Journal of Children'S Orthopaedics|July 2, 2013
Musculoskeletal manifestations of neonatal nonketotic hyperglycinemiaNorman Ramirez, John M Flynn, Francisco Casalduc, et al.
The Journal of Bone and Joint Surgery. American Volume|December 7, 2007
Natural history of thoracic insufficiency syndrome: a spondylothoracic dysplasia perspectiveNorman Ramírez, Alberto S Cornier, Robert M Campbell, et al.
Cureus|May 14, 2023
Pathogenic Presentation of a Variant of Uncertain Significance in a Puerto Rican Patient With Wiedemann-Steiner SyndromeFabiola A Benítez Ríos, Laura F Rodríguez-Fernández, Norma J Arciniegas, et al.
Boletin De La Asociacion Medica De Puerto Rico|November 29, 2013
Exacerbation of mood symptoms associated to primary and secondary carnitine deficiency: a case reportJavier Santos-Cubiñá, Alexis Torres-Rodríguez, Pedro A Castaing-Lespier, et al.
The Journal of Bone and Joint Surgery. American Volume|December 21, 2023
Long-Term Follow-up of Untreated Adult Patients with Spondylothoracic Dysostosis (Jarcho-Levin Syndrome)Norman Ramírez, Carlos Monroig-Rivera, Wilfredo De Jesús-Rojas, et al.
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