Showing results (11-20 of 43) with videos related to

Sort By:
Pageof 5
Gene|January 15, 2020
Identification of KMT2D and KDM6A variants by targeted sequencing from patients with Kabuki syndrome and other congenital disordersChui-Sun Yap, Saumya Shekhar Jamuar, Angeline H M Lai, et al.
JBMR Plus|January 12, 2026
Transient neonatal hyperparathyroidism caused by a monoallelic TRPV6 dominant negative variantJason Lam Shang Leen, Yoshiro Suzuki, Ai Ling Koh, et al.
Clinical Dysmorphology|April 16, 2019
A novel Ser40Trp variant in IFITM5 in a family with osteogenesis imperfecta and review of the literatureJiin Ying Lim, Neha Singh Bhatia, Rashida Farhad Vasanwala, et al.
American Journal of Medical Genetics. Part A|July 8, 2022
Fibrous dysplasia in cardio-facio-cutaneous syndrome: A case report and review of literatureXiaoao Dong, Nicholas C Y Png, Marielle V Fortier, et al.
HGG Advances|December 12, 2025
A systematic assessment of large language models' knowledge of rare diseases: How much do large language models know about rare disease?Tudor Groza, Allison J Marcello, Tristan Carlisle, et al.
Clinical Dysmorphology|May 17, 2023
DEGS1 -related leukodystrophy: a clinical report and review of literatureMelissa Song Ting Wong, Terrence Thomas, Jiin Ying Lim, et al.
NPJ Digital Medicine|November 25, 2025
Information content as a health system screening tool for rare diseasesTudor Groza, Peter N Robinson, Weng Khong Lim, et al.
American Journal of Medical Genetics. Part A|October 6, 2023
The IFITM5 Ser40Leu variant can manifest as prenatal Caffey diseaseJia Ying Celeste Yap, Jiin Ying Lim, Anju Bhatia, et al.
Clinical Dysmorphology|October 22, 2023
To B(enign) or Not to B: functionalisation of variant in a mild form of argininosuccinate lyase deficiency identified through newborn screeningThurston Yan Jia Heng, Jin Rong Ow, Ai Ling Koh, et al.
NPJ Genomic Medicine|June 25, 2019
Implementation of genomics in medical practice to deliver precision medicine for an Asian populationYasmin Bylstra, Sonia Davila, Weng Khong Lim, et al.
Pageof 5