| A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature Y Higuchi, K Hasegawa, M Yamashita, H Tanaka, H Tsukahara Journal of medical case reports 11, 1-6, 2017 | 34 | 2017 |
| Clinical epidemiology and treatment of febrile and afebrile convulsions with mild gastroenteritis: a multicenter study Y Higuchi, T Kubo, T Mitsuhashi, N Nakamura, I Yokota, O Komiyama, ... Pediatric neurology 67, 78-84, 2017 | 27 | 2017 |
| The identification of a novel splicing mutation in C1qB in a Japanese family with C1q deficiency: a case report Y Higuchi, J Shimizu, M Hatanaka, E Kitano, H Kitamura, H Takada, ... Pediatric Rheumatology 11, 1-6, 2013 | 21 | 2013 |
| HDR syndrome in a Japanese girl with biliary atresia: a case report Y Higuchi, K Hasegawa, M Yamashita, Y Fujii, H Tanaka, H Tsukahara BMC pediatrics 16, 1-4, 2016 | 16 | 2016 |
| A novel mutation p. Ser348Cys in FGFR3 causes achondroplasia K Hasegawa, R Fukuhara, T Moriwake, H Tanaka, Y Higuchi, ... American Journal of Medical Genetics Part A 170 (5), 1370-1372, 2016 | 15 | 2016 |
| Three cases of Japanese acromicric/geleophysic dysplasia with FBN1 mutations: a comparison of clinical and radiological features K Hasegawa, C Numakura, H Tanaka, M Furujo, T Kubo, Y Higuchi, ... Journal of Pediatric Endocrinology and Metabolism 30 (1), 117-121, 2017 | 14 | 2017 |
| Novel heterozygous mutation in TBX1 in an infant with hypocalcemic seizures K Hasegawa, H Tanaka, Y Higuchi, Y Hayashi, K Kobayashi, ... clinical pediatric endocrinology 27 (3), 159-164, 2018 | 13 | 2018 |
| Sorafenib treatment for papillary thyroid carcinoma with diffuse lung metastases in a child with autism spectrum disorder: a case report Y Higuchi, T Motoki, H Ishida, K Kanamitsu, K Washio, T Oyama, T Noda, ... BMC cancer 17, 1-5, 2017 | 12 | 2017 |
| Effect of growth hormone therapy on thyroid function in isolated growth hormone deficient and short small for gestational age children: a two-year study, including on … Y Ebuchi, T Kubo, M Furujo, Y Higuchi, S Fujinaga, H Tsuchiya, N Urata, ... Journal of Pediatric Endocrinology and Metabolism 33 (11), 1417-1423, 2020 | 7 | 2020 |
| A 9-year-old girl with Kawasaki disease and pulmonary nodules Y Higuchi, M Ochi, J Shimizu, M Furujo Clinical Rheumatology 39, 3139-3140, 2020 | 7 | 2020 |
| Genetic analysis in Japanese patients with osteogenesis imperfecta: Genotype and phenotype spectra in 96 probands Y Higuchi, K Hasegawa, N Futagawa, M Yamashita, H Tanaka, ... Molecular Genetics & Genomic Medicine 9 (6), e1675, 2021 | 6 | 2021 |
| The clinical course of Rathke’s cleft cysts in pediatric patients: impact on growth and pubertal development Y Higuchi, K Hasegawa, T Kubo, H Tanaka, H Tsukahara clinical pediatric endocrinology 31 (1), 38-43, 2022 | 5 | 2022 |
| Changes in facial appearance from neonate to adult in 3-M syndrome patient with novel CUL7 gene mutations K Hasegawa, H Tanaka, Y Higuchi, M Yamashita, H Tsukahara Journal of Pediatric Endocrinology and Metabolism 29 (2), 241-246, 2016 | 5 | 2016 |
| Japanese familial case with metaphyseal dysplasia, Schmid Type caused by the p. T555P mutation in the COL10A1 gene K Hasegawa, Y Higuchi, M Yamashita, H Tanaka clinical pediatric endocrinology 24 (1), 33-36, 2015 | 4 | 2015 |
| A novel pathogenic variant p.Asp797Val in IFIH1 in a Japanese boy with overlapping Singleton‐Merten syndrome and Aicardi‐Goutières syndrome K Hasegawa, H Tanaka, N Futagawa, H Miyahara, Y Higuchi, ... American Journal of Medical Genetics Part A 188 (1), 249-252, 2022 | 3 | 2022 |
| Association between infant breastfeeding practices and timing of peak height velocity: A nationwide longitudinal survey in Japan Y Higuchi, N Matsumoto, S Fujiwara, Y Ebuchi, M Furujo, K Nakamura, ... Pediatric Research 94 (5), 1845-1854, 2023 | 2 | 2023 |
| Neonatal-onset hereditary coproporphyria: a new variant of hereditary coproporphyria K Hasegawa, H Tanaka, M Yamashita, Y Higuchi, T Miyai, J Yoshimoto, ... JIMD Reports, Volume 37, 99-106, 2017 | 2 | 2017 |
| Urinary cross-linked N-terminal telopeptide of type I collagen levels of infants with Osteogenesis Imperfecta and healthy infants M Yamashita | 2 | 2016 |
| Infantile pyknocytosis with marked hemolytic anemia T Namba, M Ochi, H Ogura, H Kanno, Y Higuchi Pediatrics & Neonatology 62 (5), 563-564, 2021 | 1 | 2021 |
| Radiological characteristics of skeletal growth in neonates and infants with achondroplasia D Miyahara, K Hasegawa, Y Ago, N Futagawa, H Miyahara, Y Higuchi, ... American Journal of Medical Genetics Part A 194 (5), e63525, 2024 | | 2024 |
