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Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion
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Report
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Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion

Ebihara, Tomohiro ; Nagatomo, Taro ; Sugiyama, Yohei ; Tsuruoka, Tomoko ; Osone, Yoshiteru ; Shimura, Masaru ; Tajika, Makiko ; Ichimoto, Keiko ; Naruke, Yuki ; Akiyama, Nana ; Lim, Sze Chern ; Yatsuka, Yukiko ; Nitta, Kazuhiro R ; Kishita, Yoshihito ; Fushimi, Takuya ; Okazaki, Atsuko ; Ohtake, Akira ; Okazaki, Yasushi ; Murayama, Kei

Molecular genetics and metabolism reports, 2022, Vol.33, p.100912-100912

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2
Recurrence of severe hemoperitoneum in a patient on peritoneal dialysis
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Recurrence of severe hemoperitoneum in a patient on peritoneal dialysis

Ikee, R ; Branch, J ; Honda, K ; Ishioka, K ; Oka, M ; Maesato, K ; Moriya, H ; Hidaka, S ; Ohtake, T ; Kobayashi, S

Peritoneal dialysis international : journal of the International Society for Peritoneal Dialysis, 2009, Vol.29 (5), p.583-585

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3
Normal memory and no confabulation after extensive damage to the orbitofrontal cortex
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Normal memory and no confabulation after extensive damage to the orbitofrontal cortex

Fujii, T ; Suzuki, M ; Suzuki, K ; Ohtake, H ; Tsukiura, T ; Miura, R

Journal of neurology, neurosurgery, and psychiatry, 2005, Vol.76 (9), p.1309-1310

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4
Mutations of the mitochondrial ND1 gene as a cause of MELAS
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Mutations of the mitochondrial ND1 gene as a cause of MELAS

Kirby, D M ; McFarland, R ; Ohtake, A ; Dunning, C ; Ryan, M T ; Wilson, C ; Ketteridge, D ; Turnbull, D M ; Thorburn, D R ; Taylor, R W

Journal of medical genetics, 2004, Vol.41 (10), p.784-789

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