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Haruya Sakai

Observed names: Haruya SAKAI, SAKAI, Haruya
OpenAlex ID: A5111874129
Species-Specific Distribution of Heavy Metals in Tissues and Organs of Loggerhead Turtle (Caretta caretta) and Green Turtle (Chelonia mydas) from Japanese Coastal Waters
2000 · Haruya Sakai, Kazutoshi Saeki, et al. · Marine Pollution Bulletin · 163
Trace Element Accumulation in Hawksbill Turtles (eretmochelys Imbricata) and Green Turtles (chelonia Mydas) From Yaeyama Islands, Japan
2001 · Yasumi Anan, Takashi Kunito, et al. · Environmental Toxicology and Chemistry · 144
Heavy metal monitoring in sea turtles using eggs
1995 · Haruya Sakai, Hideki Ichihashi, et al. · Marine Pollution Bulletin · 121
Modulation at a cellular level of the thyroid hormone receptor-mediated gene expression by 1,2,5,6,9,10-hexabromocyclododecane (HBCD), 4,4′-diiodobiphenyl (DIB), and nitrofen (NIP)
2004 · Toshiko Yamada-Okabe, Haruya Sakai, et al. · Toxicology Letters · 96
Angelman syndrome caused by an identical familial 1,487‐kb deletion
2006 · Kanako Sato, Mie Iwakoshi, et al. · American Journal of Medical Genetics Part A · 82
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Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan‐related phenotypes
2006 · Haruya Sakai, Remco Visser, et al. · American Journal of Medical Genetics Part A · 76
Arsenic accumulation in three species of sea turtles
2000 · Kazutoshi Saeki, Hiroyuki Sakakibara, et al. · BioMetals · 75
Exome Sequencing Reveals a Homozygous SYT14 Mutation in Adult-Onset, Autosomal-Recessive Spinocerebellar Ataxia with Psychomotor Retardation
2011 · Hiroshi Doi, Kunihiro Yoshida, et al. · The American Journal of Human Genetics · 74
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Subcellular distribution of trace elements in the liver of sea turtles
2002 · Yasumi Anan, Takashi Kunito, et al. · Marine Pollution Bulletin · 52
Analysis of an insertion mutation in a cohort of 94 patients with spinocerebellar ataxia type 31 from Nagano, Japan
2010 · Haruya Sakai, Kunihiro Yoshida, et al. · Neurogenetics · 44
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2,3,7,8-tetrachlorodibenzo-p-dioxin augments the modulation of gene expression mediated by the thyroid hormone receptor
2003 · Toshiko Yamada-Okabe, Takeshi Aono, et al. · Toxicology and Applied Pharmacology · 41
Cadmium in tissues of green turtles (Chelonia mydas): A global perspective for marine biota
2018 · Nairana Santos Fraga, Agnaldo Silva Martins, et al. · The Science of The Total Environment · 32
De novo 19q13.42 duplications involving NLRP gene cluster in a patient with systemic-onset juvenile idiopathic arthritis
2011 · Hiromi Tadaki, Hirotomo Saitsu, et al. · Journal of Human Genetics · 31
A −16C>T substitution in the 5′ UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano
2006 · Takako Ohata, Kunihiro Yoshida, et al. · Journal of Human Genetics · 31
FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly
2007 · Akira Nishimura, Haruya Sakai, et al. · American Journal of Medical Genetics Part A · 30
Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys–Dietz syndrome
2008 · Yoriko Watanabe, Haruya Sakai, et al. · American Journal of Medical Genetics Part A · 24
Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencing
2011 · Haruya Sakai, Shinichi Suzuki, et al. · Human Genetics · 20
Craniosynostosis in a patient with a de novo 15q15‐q22 deletion
2008 · Yoko Hiraki, Miyuki Moriuchi, et al. · American Journal of Medical Genetics Part A · 20
Complete hydatidiform mole and normal live birth following intracytoplasmic sperm injection
2006 · Haruka Hamanoue, Nobuko Umezu, et al. · Journal of Human Genetics · 17
Severity and Progression Rate of Cerebellar Ataxia in 16q-linked Autosomal Dominant Cerebellar Ataxia (16q-ADCA) in the Endemic Nagano Area of Japan
2008 · Kunihiro Yoshida, Yusaku Shimizu, et al. · The Cerebellum · 15
A locus for ophthalmo‐acromelic syndrome mapped to 10p11.23
2009 · Haruka Hamanoue, Andre Megarbane, et al. · American Journal of Medical Genetics Part A · 13
Functional characterization of the zebrafish WHSC1-related gene, a homolog of human NSD2
2010 · Toshiko Yamada-Okabe, Kentaro Imamura, et al. · Biochemical and Biophysical Research Communications · 9
Pantropical distribution of zinc in green turtles (Chelonia mydas): marine vertebrates as sentiel species
2023 · Nairana Santos Fraga, Agnaldo Silva Martins, et al. · Environmental Science and Pollution Research · 6
Distribution of copper in the Atlantic and Pacific Oceans using green turtles (Chelonia mydas) as a bioindicator
2024 · Nairana Santos Fraga, Agnaldo Silva Martins, et al. · Environmental Science and Pollution Research · 4
[Acute lymphoblastic leukemia in a pediatric patient with Marfan's syndrome].
2011 · Yuji Miyajima, Yuma Kitase, et al. · PubMed · 3
Works count: 31
Citation count: 1,225
H-index: 18
I10-index: 21
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