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Journal of Medical Genetics|June 11, 2009
Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseasesT Furuichi, H Kayserili, S Hiraoka, et al.The Journal of Thoracic and Cardiovascular Surgery|April 12, 2005
Intraoperative identification of esophageal sentinel lymph nodes with near-infrared fluorescence imagingCherie P Parungo, Shunsuke Ohnishi, Sang-Wook Kim, et al.The Journal of Thoracic and Cardiovascular Surgery|April 1, 1997
Transmyocardial laser revascularization: results of a multicenter trial with transmyocardial laser revascularization used as sole therapy for end-stage coronary artery diseaseK A Horvath, L H Cohn, D A Cooley, et al.Journal of Medical Genetics|April 3, 2007
The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian typeGen Nishimura, Eiji Nakashima, Yuichiro Hirose, et al.JCI Insight|January 23, 2026
Small molecule inhibition rescues the skeletal dysplasia phenotype of Trpv4 mutant miceLisette Nevarez, Taylor K Ismaili, Jennifer Zieba, et al.American Journal of Medical Genetics. Part A|July 6, 2026
Biallelic Variants in MIMS1 Produce a Form of Spondyloepimetaphyseal Dysplasia With Tracheal Stenosis and Ectodermal Dysplasia (SEMDTSED)Abdullah Sezer, Mathieu Quinodoz, Bing Li, et al.Artificial Organs|December 8, 2010
A novel, innovative ovine model of chronic ischemic cardiomyopathy induced by multiple coronary ligationsJan D Schmitto, Suyog A Mokashi, Lawrence S Lee, et al.Nature Genetics|October 15, 1998
Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouseM Faiyaz ul Haque, L M King, D Krakow, et al.American Journal of Medical Genetics. Part A|October 22, 2019
Nosology and classification of genetic skeletal disorders: 2019 revisionGeert R Mortier, Daniel H Cohn, Valerie Cormier-Daire, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|January 8, 2022
4-PBA Treatment Improves Bone Phenotypes in the Aga2 Mouse Model of Osteogenesis ImperfectaIvan Duran, Jennifer Zieba, Fabiana Csukasi, et al.Pageof 79