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Jun Tohyama

Showing results (61-70 of 102) with videos related to

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Annals of Clinical and Translational Neurology|January 18, 2022
Sirolimus for epileptic seizures associated with focal cortical dysplasia type IIMitsuhiro Kato, Akiko Kada, Hideaki Shiraishi, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|July 2, 2016
Determination of CSF 5-methyltetrahydrofolate in children and its application for defects of folate transport and metabolismMari Akiyama, Tomoyuki Akiyama, Kaoruko Kanamaru, et al.
Human Genome Variation|June 23, 2023
The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticusYu Kobayashi, Jun Tohyama, Noriyuki Akasaka, et al.
Genomics|September 8, 2009
TULIP1 (RALGAPA1) haploinsufficiency with brain development delayKeiko Shimojima, Yuta Komoike, Jun Tohyama, et al.
Annals of Clinical and Translational Neurology|May 28, 2016
Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartomaHirotomo Saitsu, Masaki Sonoda, Takefumi Higashijima, et al.
Journal of Human Genetics|January 18, 2018
Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathyKazuhiro Iwama, Toru Takaori, Ai Fukushima, et al.
BMC Pulmonary Medicine|February 19, 2017
Elderly-onset hereditary pulmonary alveolar proteinosis and its cytokine profileMasayuki Ito, Kazuyuki Nakagome, Hiromitsu Ohta, et al.
Journal of Human Genetics|August 8, 2014
A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutationHirotomo Saitsu, Jun Tohyama, Tom Walsh, et al.
Scientific Reports|October 20, 2015
De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firingHirotomo Saitsu, Tenpei Akita, Jun Tohyama, et al.
Epilepsia Open|November 13, 2021
Different pharmacoresistance of focal epileptic spasms, generalized epileptic spasms, and generalized epileptic spasms combined with focal seizuresYukitoshi Takahashi, Akiko Ota, Jun Tohyama, et al.
Pageof 11

Showing results (61-70 of 102) with videos related to

Sort By:
Pageof 11
Annals of Clinical and Translational Neurology|January 18, 2022
Sirolimus for epileptic seizures associated with focal cortical dysplasia type IIMitsuhiro Kato, Akiko Kada, Hideaki Shiraishi, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|July 2, 2016
Determination of CSF 5-methyltetrahydrofolate in children and its application for defects of folate transport and metabolismMari Akiyama, Tomoyuki Akiyama, Kaoruko Kanamaru, et al.
Human Genome Variation|June 23, 2023
The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticusYu Kobayashi, Jun Tohyama, Noriyuki Akasaka, et al.
Genomics|September 8, 2009
TULIP1 (RALGAPA1) haploinsufficiency with brain development delayKeiko Shimojima, Yuta Komoike, Jun Tohyama, et al.
Annals of Clinical and Translational Neurology|May 28, 2016
Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartomaHirotomo Saitsu, Masaki Sonoda, Takefumi Higashijima, et al.
Journal of Human Genetics|January 18, 2018
Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathyKazuhiro Iwama, Toru Takaori, Ai Fukushima, et al.
BMC Pulmonary Medicine|February 19, 2017
Elderly-onset hereditary pulmonary alveolar proteinosis and its cytokine profileMasayuki Ito, Kazuyuki Nakagome, Hiromitsu Ohta, et al.
Journal of Human Genetics|August 8, 2014
A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutationHirotomo Saitsu, Jun Tohyama, Tom Walsh, et al.
Scientific Reports|October 20, 2015
De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firingHirotomo Saitsu, Tenpei Akita, Jun Tohyama, et al.
Epilepsia Open|November 13, 2021
Different pharmacoresistance of focal epileptic spasms, generalized epileptic spasms, and generalized epileptic spasms combined with focal seizuresYukitoshi Takahashi, Akiko Ota, Jun Tohyama, et al.
Pageof 11