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Frontiers in Pediatrics|April 18, 2022
Refining the Phenotypic Spectrum of <i>KMT5B</i>-Associated Developmental DelayAviva Eliyahu, Ortal Barel, Lior Greenbaum, et al.Beilstein Journal of Nanotechnology|December 18, 2020
Nanomechanics of few-layer materials: do individual layers slide upon folding?Ronaldo J C Batista, Rafael F Dias, Ana P M Barboza, et al.Clinical Genetics|August 31, 2016
Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutationsM A Shahrour, O Staretz-Chacham, D Dayan, et al.Pediatric Nephrology (Berlin, Germany)|August 6, 2017
Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of casesAsaf Vivante, Hadas Ityel, Ben Pode-Shakked, et al.Frontiers in Genetics|March 31, 2023
Hereditary orotic aciduria identified by newborn screeningOrna Staretz-Chacham, Nadirah S Damseh, Suha Daas, et al.Journal of Medical Genetics|July 3, 2021
Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defectsYoav Bolkier, Ortal Barel, Dina Marek-Yagel, et al.Journal of Inherited Metabolic Disease|September 25, 2024
Newborn screening algorithm distinguishing potential symptomatic isovaleric acidemia from asymptomatic newbornsRachel Rock, Oded Rock, Suha Daas, et al.Journal of Inherited Metabolic Disease|December 14, 2022
Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemiaSuha Daas, Nasser Abu Salah, Yair Anikster, et al.Journal of Inherited Metabolic Disease|April 26, 2026
2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type CTarekegn Hiwot, Forbes D Porter, Tatiana Bremova-Ertl, et al.Journal of Inherited Metabolic Disease|November 15, 2020
The role of orotic acid measurement in routine newborn screening for urea cycle disordersOrna Staretz-Chacham, Suha Daas, Igor Ulanovsky, et al.Pageof 14