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The Canadian Veterinary Journal = La Revue Veterinaire Canadienne|March 4, 2024
Suspected malnutrition-induced reversible feline skin fragility syndrome in a cat with congenital axial deformitiesYoshihiko Yu, Tadashi Miyamoto, Yui Kimura, et al.
Glycobiology|December 6, 2017
Vascular abnormalities in the placenta of Chst14-/- fetuses: implications in the pathophysiology of perinatal lethality of the murine model and vascular lesions in human CHST14/D4ST1 deficiencyTakahiro Yoshizawa, Shuji Mizumoto, Yuki Takahashi, et al.
American Journal of Medical Genetics. Part A|October 13, 2011
De novo 5q14.3 translocation 121.5-kb upstream of MEF2C in a patient with severe intellectual disability and early-onset epileptic encephalopathyHirotomo Saitsu, Noboru Igarashi, Mitsuhiro Kato, et al.
Cancer Medicine|March 30, 2026
Molecular Characterization and Its Clinical Application of GNAS Variants in Intramuscular MyxomaMunehisa Kito, Shohei Shigeto, Mai Iwaya, et al.
Molecular Cytogenetics|December 6, 2014
Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21) translocationDivya Mishra, Takema Kato, Hidehito Inagaki, et al.
Spine|March 25, 2017
Rigid Occipitocervical Instrumented Fusion for Atlantoaxial Instability in an 18-Month-Old Toddler With Brachytelephalangic Chondrodysplasia Punctata: A Case ReportHiroki Oba, Jun Takahashi, Kyoko Takano, et al.
Rinsho Byori. the Japanese Journal of Clinical Pathology|March 16, 2012
[Case with intrauterine fetus death: interphase fluorescence in situ hybridization using buccal cells is useful for examining chromosomal abnormalities when placental villus not available]Yuka Takezawa, Tomoki Kosho, Kazuyuki Matsuda, et al.
Glycobiology|July 1, 2020
Systematic investigation of the skin in Chst14-/- mice: A model for skin fragility in musculocontractural Ehlers-Danlos syndrome caused by CHST14 variants (mcEDS-CHST14)Takuya Hirose, Shuji Mizumoto, Ayana Hashimoto, et al.
Molecular Genetics & Genomic Medicine|March 5, 2020
Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiencyCharlotte K Lautrup, Keng W Teik, Ai Unzaki, et al.
Genetic Testing|October 24, 2007
Screening for Alagille syndrome mutations in the JAG1 and NOTCH2 genes using denaturing high-performance liquid chromatographyHazuki Samejima, Chiharu Torii, Rika Kosaki, et al.
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