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Molecular Syndromology|December 11, 2025
A TMEM260 Biallelic Deletion Underlies Truncus ArteriosusYumi Enomoto, Takuya Naruto, Jun Mitsui, et al.Journal of Child Neurology|July 17, 2014
West syndrome in a patient with Schinzel-Giedion syndromeFuyu Miyake, Yukiko Kuroda, Takuya Naruto, et al.Human Genome Variation|August 19, 2017
Novel CLCN7 compound heterozygous mutations in intermediate autosomal recessive osteopetrosisNana Okamoto, Tomohiro Kohmoto, Takuya Naruto, et al.Modern Rheumatology|October 23, 2008
Hyper-IgD syndrome with novel mutation in a Japanese girlTakuya Naruto, Yasuo Nakagishi, Masaaki Mori, et al.Journal of Human Genetics|September 20, 2024
Biallelic TXNDC15 variants associated with Joubert syndrome-related molar tooth sign and forebrain malformationYukiko Kuroda, Tamaki Ikegawa, Ayumi Kato, et al.American Journal of Medical Genetics. Part A|June 26, 2024
GPC4 truncating variant associated with Keipert syndrome and lacrimal punctal agenesisYukiko Kuroda, Takeshi Uehara, Yumi Enomoto, et al.American Journal of Medical Genetics. Part A|May 15, 2023
PHACES-like syndrome with TMEM260 compound heterozygous variantsYukiko Kuroda, Yoko Saito, Yumi Enomoto, et al.European Journal of Medical Genetics|September 21, 2023
A CAMK2B variant associated with tetralogy of Fallot, developmental delay, and growth retardationYuji Horii, Yukiko Kuroda, Yoko Saito, et al.Clinical Genetics|November 6, 2025
Homozygous LZTR1 Variant Lacking the Second BTB Domain Associated With Bone Marrow Failure and Multiple Congenital Anomalies Distinct From Those of Noonan SyndromeYukiko Kuroda, Tomoko Yokosuka, Koki Nagai, et al.American Journal of Medical Genetics. Part A|May 14, 2024
Noonan syndrome-like phenotype associated with an ERF frameshift variantYasuhiro Hirano, Yukiko Kuroda, Yumi Enomoto, et al.Pageof 11