Showing results (41-50 of 49) with videos related to
Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 49 results.
Biochemical and Biophysical Research Communications|July 6, 2010
Establishment of sandwich ELISA for soluble alpha-Klotho measurement: Age-dependent change of soluble alpha-Klotho levels in healthy subjectsYuji Yamazaki, Akihiro Imura, Itaru Urakawa, et al.Genetics in Medicine Open|June 11, 2025
Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panelsEmma H Wilcox, Ryan F Webb, Kezang C Tshering, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|May 11, 2016
Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia SyndromeMary Scott Ramnitz, Pravitt Gourh, Raphaela Goldbach-Mansky, et al.Journal of the American Society of Nephrology : JASN|April 5, 2014
Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosisDebayan Dasgupta, Mark J Wee, Monica Reyes, et al.Brain : a Journal of Neurology|October 24, 2018
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyondCarla Marini, Alessandro Porro, Agnès Rastetter, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 4, 2018
Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patientsCyril Mignot, Aoife C McMahon, Claire Bar, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 13, 2018
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patientsCyril Mignot, Aoife C McMahon, Claire Bar, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 4, 2019
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiencyAsh Zawerton, Cyril Mignot, Ashley Sigafoos, et al.Brain : a Journal of Neurology|August 25, 2021
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implicationsKatrine M Johannesen, Yuanyuan Liu, Mahmoud Koko, et al.Pageof 5