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American Journal of Medical Genetics. Part A|September 19, 2020
46,XY DSD and limb abnormalities in a female with a de novo LHX9 missense mutationMia Kunitomo, Aditi Khokhar, Christina Kresge, et al.Child Neurology Open|September 1, 2017
A Case of Brown-Vialetto-Van Laere Syndrome Due To a Novel Mutation in SLC52A3 Gene: Clinical Course and Response to RiboflavinVenkatraman Thulasi, Aravindhan Veerapandiyan, Beth A Pletcher, et al.Cancer Genetics and Cytogenetics|December 8, 2009
Cytogenetics of neurofibromas: two case reports and literature reviewKenian Liu, Patricia DeAngelo, Kathleen Mahmet, et al.Case Reports in Endocrinology|March 28, 2022
A Case of Growth Hormone Use in Dyggve-Melchior-Clausen SyndromeRavi Upadhyay, Claire Ruane, Rachel Umans, et al.American Journal of Medical Genetics. Part A|March 17, 2023
Long-term outcomes in ALG13-Congenital Disorder of GlycosylationRameen Shah, Christin Johnsen, Beth A Pletcher, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|September 26, 2006
Muscle infarction in a 13 year-old female with type 1 diabetes mellitus of short durationJudith Umeukeje, Beth A Pletcher, Marcia Blacksin, et al.European Journal of Pediatrics|February 24, 2006
SAPHO osteomyelitis and sarcoid dermatitis in a patient with DiGeorge syndromeHarumi Jyonouchi, Kenneth W Lien, Helen Aguila, et al.The Journal of Adolescent Health : Official Publication of the Society for Adolescent Medicine|April 25, 2012
Diffuse peritoneal chlamydial infection presenting as possible ovarian peritoneal carcinomatosis in an adolescent femaleSheetal D Sran, Allison S Mautone, Anton M Kolomeyer, et al.The Journal of Pediatrics|March 16, 2010
Primary care pediatricians' satisfaction with subspecialty care, perceived supply, and barriers to careBeth A Pletcher, Mary Ellen Rimsza, William L Cull, et al.Journal of Pediatric Genetics|January 1, 2024
Wolf-Hirschhorn Syndrome with Hyperparathyroidism: A Case Report and a Narrative Review of the LiteratureChangqing Xia, Dibyendu Kumar, Bei You, et al.Pageof 3