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July 25, 2022
Successful endoscopic sclerotherapy with bile duct stenting for a vascular malformation neighboring the duodenal papilla in blue rubber bleb nevus syndrome
Shingo Unoura, Yosuke Toya, Satoshi Kasugai, et al.
Orphanet Journal of Rare Diseases
|
January 7, 2021
Acute encephalopathy in children with tuberous sclerosis complex
Shingo Numoto, Hirokazu Kurahashi, Atsushi Sato, et al.
Pediatric Blood & Cancer
|
December 27, 2025
Molecular Remission Confirmed by Monitoring a PTPN11 Mutation in Myeloid Leukemia of Down Syndrome Treated With Reduced-Intensity Stem Cell Transplantation: A Case Report
Taro Yoshida, Hideki Muramatsu, Shuta Ishikawa, et al.
Molecular Genetics and Metabolism Reports
|
July 22, 2022
Lactulose: A treatment for hyperammonemia in a lysinuric protein-intolerant patient with dynamic blood amino acid concentrations
Keisuke Kakisaka, Takuro Sato, Yasunori Wada, et al.
Brain & Development
|
August 27, 2014
Clinical and genetic features of acute encephalopathy in children taking theophylline
Makiko Saitoh, Mayu Shinohara, Atsushi Ishii, et al.
Epigenomics
|
January 8, 2026
Inter-individual differentially methylated region-targeted EWAS reveals epigenetic signatures of early childhood adversity
Taira Mayanagi, Junko Yagi, Hideki Ohmomo, et al.
Epilepsy Research
|
October 23, 2010
Unique discrepancy between cerebral blood flow and glucose metabolism in hemimegalencephaly
Mitsugu Uematsu, Kazuhiro Haginoya, Noriko Togashi, et al.
Molecular Genetics and Metabolism
|
May 11, 2025
Dual pathogenic mechanisms in lysinuric protein intolerance: Interplay between hyperammonemia and cellular metabolic dysregulation in astrocyte injury
Keisuke Kakisaka, Takuro Sato, Yasunori Wada, et al.
Plos One
|
December 18, 2018
Familial episodic limb pain in kindreds with novel Nav1.9 mutations
Risako Kabata, Hiroko Okuda, Atsuko Noguchi, et al.
Rheumatology (Oxford, England)
|
December 5, 2013
A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study
Junya Abe, Kazuyuki Nakamura, Ryuta Nishikomori, et al.
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of 6
Search research articles
Search
Showing results (41-50 of 54) with videos related to
Sort By:
Page
of 6
DEN Open
|
July 25, 2022
Successful endoscopic sclerotherapy with bile duct stenting for a vascular malformation neighboring the duodenal papilla in blue rubber bleb nevus syndrome
Shingo Unoura, Yosuke Toya, Satoshi Kasugai, et al.
Orphanet Journal of Rare Diseases
|
January 7, 2021
Acute encephalopathy in children with tuberous sclerosis complex
Shingo Numoto, Hirokazu Kurahashi, Atsushi Sato, et al.
Pediatric Blood & Cancer
|
December 27, 2025
Molecular Remission Confirmed by Monitoring a PTPN11 Mutation in Myeloid Leukemia of Down Syndrome Treated With Reduced-Intensity Stem Cell Transplantation: A Case Report
Taro Yoshida, Hideki Muramatsu, Shuta Ishikawa, et al.
Molecular Genetics and Metabolism Reports
|
July 22, 2022
Lactulose: A treatment for hyperammonemia in a lysinuric protein-intolerant patient with dynamic blood amino acid concentrations
Keisuke Kakisaka, Takuro Sato, Yasunori Wada, et al.
Brain & Development
|
August 27, 2014
Clinical and genetic features of acute encephalopathy in children taking theophylline
Makiko Saitoh, Mayu Shinohara, Atsushi Ishii, et al.
Epigenomics
|
January 8, 2026
Inter-individual differentially methylated region-targeted EWAS reveals epigenetic signatures of early childhood adversity
Taira Mayanagi, Junko Yagi, Hideki Ohmomo, et al.
Epilepsy Research
|
October 23, 2010
Unique discrepancy between cerebral blood flow and glucose metabolism in hemimegalencephaly
Mitsugu Uematsu, Kazuhiro Haginoya, Noriko Togashi, et al.
Molecular Genetics and Metabolism
|
May 11, 2025
Dual pathogenic mechanisms in lysinuric protein intolerance: Interplay between hyperammonemia and cellular metabolic dysregulation in astrocyte injury
Keisuke Kakisaka, Takuro Sato, Yasunori Wada, et al.
Plos One
|
December 18, 2018
Familial episodic limb pain in kindreds with novel Nav1.9 mutations
Risako Kabata, Hiroko Okuda, Atsuko Noguchi, et al.
Rheumatology (Oxford, England)
|
December 5, 2013
A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study
Junya Abe, Kazuyuki Nakamura, Ryuta Nishikomori, et al.
Page
of 6