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American Journal of Medical Genetics. Part A|September 13, 2024
Assessing Postnatal Mortality in Smith-Lemli-Opitz SyndromeAishwarya Selvaraman, Samar Rahhal, Simona Bianconi, et al.Molecular Genetics and Metabolism|September 8, 2024
Elevated cerebrospinal fluid glial fibrillary acidic protein levels in Smith-Lemli-Opitz syndromeRachel A Luke, Niamh X Cawley, Samar Rahhal, et al.Pediatrics|August 18, 2010
Bicalutamide and third-generation aromatase inhibitors in testotoxicosisAnne M Lenz, Dorothy Shulman, Erica A Eugster, et al.American Journal of Medical Genetics. Part A|October 18, 2023
Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutationMyriam Abdennadher, Sara K Inati, Samar Rahhal, et al.International Journal of Pediatric Endocrinology|December 4, 2009
Results of a second year of therapy with the 12-month histrelin implant for the treatment of central precocious pubertySamar Rahhal, William L Clarke, Gad B Kletter, et al.Molecular Genetics and Metabolism Reports|September 4, 2023
Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiencySamar Rahhal, Cristan Farmer, Audrey Thurm, et al.Molecular Genetics and Metabolism Reports|December 6, 2023
Corrigendum to "Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency"Samar Rahhal, Cristan Farmer, Audrey Thurm, et al.Journal of Inherited Metabolic Disease|March 10, 2025
Elevated Cerebrospinal Fluid Total Tau in Niemann-Pick Disease Type C1: Correlation With Clinical Severity and Response to Therapeutic InterventionsNiamh X Cawley, Ruyu Zhou, Nicole M Farhat, et al.Pediatric Neurology|November 19, 2025
Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational StudyJudith S Miller, Cristan Farmer, Susan Blair, et al.Pageof 1