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Neurology|June 13, 2014
Variations in EEG discharges predict ADHD severity within individual Smith-Lemli-Opitz patientsJohn M Schreiber, Diane C Lanham, William H Trescher, et al.
Genetics in Medicine Open|August 18, 2025
Serum neurofilament light protein as a biomarker in Niemann-Pick disease, type C1Niamh X Cawley, Ruyu Zhou, Avani Mylvara, et al.
BMC Genomics|August 16, 2023
Rare disease variant curation from literature: assessing gaps with creatine transport deficiency in focusErica L Lyons, Daniel Watson, Mohammad S Alodadi, et al.
The Journal of Surgical Research|December 6, 2020
Geriatric Skiers: Active But Still at Risk, a National Trauma Data Bank StudyEleah D Porter, Jenaya L Goldwag, Allison R Wilcox, et al.
Human Molecular Genetics|June 19, 2003
Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiencyPatrycja A Krakowiak, Christopher A Wassif, Lisa Kratz, et al.
The American Journal of Medicine|September 26, 1983
Time course of regression of left ventricular hypertrophy in treated hypertensive patientsG L Wollam, W D Hall, V D Porter, et al.
Metallomics : Integrated Biometal Science|December 18, 2013
Altered transition metal homeostasis in Niemann-Pick disease, type C1Ya Hui Hung, Noel G Faux, David W Killilea, et al.
Orphanet Journal of Rare Diseases|June 18, 2015
A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 diseaseAnne-Katrin Giese, Hermann Mascher, Ulrike Grittner, et al.
Nature|March 8, 2000
The LIM homeobox gene Lhx9 is essential for mouse gonad formationO S Birk, D E Casiano, C A Wassif, et al.
Cell Reports|December 5, 2025
Allele-specific zinc metalloprotease B influences cardiac damage during invasive pneumococcal diseaseJennifer N Luck, Adonis D'Mello, Vipin Chembilikandy, et al.
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