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Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 10, 2017
Precision newborn screening for lysosomal disordersMelissa M Minter Baerg, Stephanie D Stoway, Jeremy Hart, et al.Journal of Cutaneous Pathology|March 4, 2020
Cutaneous microsporidiosis in an immunosuppressed patientDaniel A Nadelman, Ashley R Bradt, Yvonne Qvarnstrom, et al.Journal of Inherited Metabolic Disease|July 10, 2025
Plasma Metabolomics, Lipidomics, and Acylcarnitines Are Associated With Vision and Genotype but Not With Dietary Intake in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD)Hak Chung, Dongseok Choi, Ashley Gregor, et al.Journal of Inherited Metabolic Disease|September 6, 2017
Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trialMelanie B Gillingham, Stephen B Heitner, Julie Martin, et al.Hematological Oncology|May 27, 2015
The expression of RUNDC3B is associated with promoter methylation in lymphoid malignanciesDane W Burmeister, Emily H Smith, Robert T Cristel, et al.Journal of Cutaneous Pathology|March 28, 2024
Multiple primary dermatofibrosarcoma protuberans tumors in a single patient with chromosomal microarray analysis: A case report and reviewJoseph S Durgin, Carli P Whittington, Mallory Joseph, et al.Journal of Cutaneous Pathology|June 23, 2021
Symmetric drug-related intertriginous and flexural exanthema: Clinicopathologic study of 19 cases and review of literatureAndrew M Schuler, Emily H Smith, Kristine M Chaudet, et al.Familial Cancer|June 1, 2024
A retrospective cohort study of genetic referral and diagnosis of Birt-Hogg-Dubé Syndrome in patients with Trichodiscoma and Fibrofolliculoma skin lesionsChristina Shabet, Meera Kattapuram, Anna Burton, et al.Molecular Genetics and Metabolism|November 28, 2006
Expanded newborn screening identifies maternal primary carnitine deficiencyLisa A Schimmenti, Eric A Crombez, Bernd C Schwahn, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 10, 2015
Outcomes of four patients with homocysteine remethylation disorders detected by newborn screeningDerek Wong, Silvia Tortorelli, Lisa Bishop, et al.Pageof 17