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Orphanet Journal of Rare Diseases|December 19, 2021
Current status of newborn screening for Pompe disease in JapanTakaaki Sawada, Jun Kido, Keishin Sugawara, et al.
Neurobiology of Disease|January 31, 2021
An iPSC-based neural model of sialidosis uncovers glycolytic impairment-causing presynaptic dysfunction and deregulation of Ca2+ dynamicsHaruki Odaka, Tadahiro Numakawa, Minami Soga, et al.
Journal of Inherited Metabolic Disease|April 11, 2021
Long-term outcome of urea cycle disorders: Report from a nationwide study in JapanJun Kido, Shirou Matsumoto, Johannes Häberle, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society|December 23, 2022
Outcomes of pediatric obesity-related lifestyle disease screenings in KumamotoFusa Nagamatsu, Jun Kido, Yoshiko Suginohara, et al.
Journal of Inherited Metabolic Disease|September 8, 2023
Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screeningJun Kido, Johannes Häberle, Toju Tanaka, et al.
Journal of Inherited Metabolic Disease|February 10, 2022
Clinical manifestation and long-term outcome of citrin deficiency: Report from a nationwide study in JapanJun Kido, Johannes Häberle, Keishin Sugawara, et al.
Molecular Genetics and Metabolism|April 2, 2026
Development of a quantitative real-time PCR-based newborn screening system for citrin deficiency using dried blood spotsJun Kido, Hiromasa Nakashima, Johannes Häberle, et al.
NPJ Genomic Medicine|March 27, 2026
Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discoveryLi Fu, Chong Ae Kim, Masatoshi Tokita, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 2, 2022
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signatureRichard H van Jaarsveld, Jack Reilly, Marie-Claire Cornips, et al.
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