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Iscience
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October 11, 2021
Restoration of the defect in radial glial fiber migration and cortical plate organization in a brain organoid model of Fukuyama muscular dystrophy
Mariko Taniguchi-Ikeda, Michiyo Koyanagi-Aoi, Tatsuo Maruyama, et al.
American Journal of Medical Genetics. Part A
|
October 1, 2015
A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency
Taku Nakagawa, Mariko Taniguchi-Ikeda, Yoshiko Murakami, et al.
Journal of Human Genetics
|
June 1, 2018
Congenital chloride diarrhea needs to be distinguished from Bartter and Gitelman syndrome
Natsuki Matsunoshita, Kandai Nozu, Masahide Yoshikane, et al.
Clinical and Experimental Nephrology
|
November 1, 2016
Female X-linked Alport syndrome with somatic mosaicism
Kana Yokota, Kandai Nozu, Shogo Minamikawa, et al.
Human Molecular Genetics
|
November 20, 2008
Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy
Motoi Kanagawa, Akemi Nishimoto, Tomohiro Chiyonobu, et al.
Journal of Human Genetics
|
February 21, 2018
Development of ultra-deep targeted RNA sequencing for analyzing X-chromosome inactivation in female Dent disease
Shogo Minamikawa, Kandai Nozu, Yoshimi Nozu, et al.
Neuropsychopharmacology Reports
|
August 15, 2025
Nonrandomized Allocation of Steroid Therapy in Patients With Fukuyama Congenital Muscular Dystrophy: Study Protocol for a Phase II Clinical Trial
Terumi Murakami, Takatoshi Sato, Takami Ishizuka, et al.
Frontiers in Pediatrics
|
September 21, 2017
Gestational Age-Dependent Increase of Survival Motor Neuron Protein in Umbilical Cord-Derived Mesenchymal Stem Cells
Sota Iwatani, Nur Imma Fatimah Harahap, Dian Kesumapramudya Nurputra, et al.
Gastroenterology
|
August 22, 2024
Glutamine Supplementation as a Novel Metabolic Therapeutic Strategy for LIG3-Dependent Chronic Intestinal Pseudo-Obstruction
Chiara Diquigiovanni, Nicola Rizzardi, Erica Cataldi-Stagetti, et al.
The Journal of Allergy and Clinical Immunology. Global
|
July 21, 2025
B-cell immunodeficiency associated with polynucleotide kinase 3'-phosphatase (PNKP) deficiency
Sanami Takada, Tsubasa Okano, Kay Tanita, et al.
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Search research articles
Search
Showing results (81-90 of 91) with videos related to
Sort By:
Page
of 10
Iscience
|
October 11, 2021
Restoration of the defect in radial glial fiber migration and cortical plate organization in a brain organoid model of Fukuyama muscular dystrophy
Mariko Taniguchi-Ikeda, Michiyo Koyanagi-Aoi, Tatsuo Maruyama, et al.
American Journal of Medical Genetics. Part A
|
October 1, 2015
A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency
Taku Nakagawa, Mariko Taniguchi-Ikeda, Yoshiko Murakami, et al.
Journal of Human Genetics
|
June 1, 2018
Congenital chloride diarrhea needs to be distinguished from Bartter and Gitelman syndrome
Natsuki Matsunoshita, Kandai Nozu, Masahide Yoshikane, et al.
Clinical and Experimental Nephrology
|
November 1, 2016
Female X-linked Alport syndrome with somatic mosaicism
Kana Yokota, Kandai Nozu, Shogo Minamikawa, et al.
Human Molecular Genetics
|
November 20, 2008
Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy
Motoi Kanagawa, Akemi Nishimoto, Tomohiro Chiyonobu, et al.
Journal of Human Genetics
|
February 21, 2018
Development of ultra-deep targeted RNA sequencing for analyzing X-chromosome inactivation in female Dent disease
Shogo Minamikawa, Kandai Nozu, Yoshimi Nozu, et al.
Neuropsychopharmacology Reports
|
August 15, 2025
Nonrandomized Allocation of Steroid Therapy in Patients With Fukuyama Congenital Muscular Dystrophy: Study Protocol for a Phase II Clinical Trial
Terumi Murakami, Takatoshi Sato, Takami Ishizuka, et al.
Frontiers in Pediatrics
|
September 21, 2017
Gestational Age-Dependent Increase of Survival Motor Neuron Protein in Umbilical Cord-Derived Mesenchymal Stem Cells
Sota Iwatani, Nur Imma Fatimah Harahap, Dian Kesumapramudya Nurputra, et al.
Gastroenterology
|
August 22, 2024
Glutamine Supplementation as a Novel Metabolic Therapeutic Strategy for LIG3-Dependent Chronic Intestinal Pseudo-Obstruction
Chiara Diquigiovanni, Nicola Rizzardi, Erica Cataldi-Stagetti, et al.
The Journal of Allergy and Clinical Immunology. Global
|
July 21, 2025
B-cell immunodeficiency associated with polynucleotide kinase 3'-phosphatase (PNKP) deficiency
Sanami Takada, Tsubasa Okano, Kay Tanita, et al.
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of 10