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Brain & Development|May 29, 2017
Clinical features of a female with WDR45 mutation complicated by infantile spasms: a case report and literature reviewManami Morikawa, Kyoko Takano, Mitsuo Motobayashi, et al.
Nature Reviews. Disease Primers|August 1, 2020
The Ehlers-Danlos syndromesFransiska Malfait, Marco Castori, Clair A Francomano, et al.
The Knee|September 29, 2007
Brothers with genu recurvatumNaoto Saito, Keiji Tensyo, Hiroshi Horiuchi, et al.
Circulation Journal : Official Journal of the Japanese Circulation Society|January 26, 2007
Genetic aspects of the vascular type of Ehlers-Danlos syndrome (vEDS, EDSIV) in JapanAtsushi Watanabe, Tomoki Kosho, Takahiro Wada, et al.
Modern Rheumatology Case Reports|July 22, 2020
The first experience of denosumab therapy on patients with Ehlers-Danlos syndrome and osteoporosis: detailed observation of two patientsSako Yasukawa, Masashi Uehara, Takako Suzuki, et al.
Neurology. Genetics|December 19, 2022
Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant of HTRA1Yasufumi Kondo, Tsuneaki Yoshinaga, Katsuya Nakamura, et al.
Microscopy (Oxford, England)|February 18, 2025
Segmented ring-mesh model of glycosaminoglycan chains based on the 3D analysis of normal individual and Musculocontractural Ehlers-Danlos syndrome skin using scanning transmission electron microscopyNaoki Takahashi, Takuya Hirose, Kiyokazu Kametani, et al.
American Journal of Medical Genetics. Part A|September 24, 2021
Expanding the phenotypic spectrum of cardiospondylocarpofacial syndrome: From a detailed clinical and radiological observation of a boy with a novel missense variant in MAP3K7Mari Minatogawa, Noriko Miyake, Yoshinori Tsukahara, et al.
Genes|July 29, 2023
Otological Features of Patients with Musculocontractural Ehlers-Danlos Syndrome Caused by Pathogenic Variants in CHST14 (mcEDS-CHST14)Masayuki Kawakita, Satoshi Iwasaki, Hideaki Moteki, et al.
Pediatric Radiology|September 19, 2003
Bronchopulmonary foregut malformation diagnosed by three-dimensional CTTakayoshi Tsuchiya, Kazuhiro Mori, Tomonori Ichikawa, et al.
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