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Clinica Chimica Acta; International Journal of Clinical Chemistry
|
March 11, 2014
Changes of lipoproteins in phenylalanine hydroxylase-deficient children during the first year of life
Hironori Nagasaka, Hirokazu Tsukahara, Yoshiyuki Okano, et al.
Clinical Case Reports
|
March 23, 2019
Mitochondrial complex deficiency by novel compound heterozygous <i>TMEM70</i> variants and correlation with developmental delay, undescended testicle, and left ventricular noncompaction in a Japanese patient: A case report
Keiichi Hirono, Fukiko Ichida, Natsuhito Nishio, et al.
Biomolecules
|
January 25, 2025
NADH Reductive Stress and Its Correlation with Disease Severity in Leigh Syndrome: A Pilot Study Using Patient Fibroblasts and a Mouse Model
Tamaki Ishima, Natsuka Kimura, Mizuki Kobayashi, et al.
Molecular Genetics and Metabolism Reports
|
March 27, 2023
Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G > A <i>MT-TS2</i> pathogenic variant in a Japanese family
Sayaka Suzuki-Ajihara, Megumi Saito-Tsuruoka, Hiroko Harashima, et al.
Journal of Human Genetics
|
July 22, 2025
Identification of a pathogenic RNU4-2 variant in patients with mitochondrial disease: Broadening the spectrum of non-coding RNA gene variants in mitochondrial dysfunction
Kohta Nakamura, Yoshihito Kishita, Atsuko Imai-Okazaki, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 20, 2003
Thrombocytopenia in patients with 22q11.2 deletion syndrome and its association with glycoprotein Ib-beta
Taichi Kato, Kazuki Kosaka, Misa Kimura, et al.
International Journal of Neonatal Screening
|
August 22, 2025
Prediction of Congenital Portosystemic Shunt in Neonatal Hypergalactosemia Using Gal-1-P/Gal Ratio, Bile Acid, and Ammonia
Sayaka Suzuki-Ajihara, Ikuma Musha, Masato Arao, et al.
Journal of Human Genetics
|
August 8, 2014
A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation
Hirotomo Saitsu, Jun Tohyama, Tom Walsh, et al.
Scientific Reports
|
February 27, 2024
Apomorphine is a potent inhibitor of ferroptosis independent of dopaminergic receptors
Akihiko Miyauchi, Chika Watanabe, Naoya Yamada, et al.
Journal of Human Genetics
|
May 28, 2023
Novel ITPA variants identified by whole genome sequencing and RNA sequencing
Nanako Omichi, Yoshihito Kishita, Mina Nakama, et al.
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of 15
Search research articles
Search
Showing results (71-80 of 144) with videos related to
Sort By:
Page
of 15
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
March 11, 2014
Changes of lipoproteins in phenylalanine hydroxylase-deficient children during the first year of life
Hironori Nagasaka, Hirokazu Tsukahara, Yoshiyuki Okano, et al.
Clinical Case Reports
|
March 23, 2019
Mitochondrial complex deficiency by novel compound heterozygous <i>TMEM70</i> variants and correlation with developmental delay, undescended testicle, and left ventricular noncompaction in a Japanese patient: A case report
Keiichi Hirono, Fukiko Ichida, Natsuhito Nishio, et al.
Biomolecules
|
January 25, 2025
NADH Reductive Stress and Its Correlation with Disease Severity in Leigh Syndrome: A Pilot Study Using Patient Fibroblasts and a Mouse Model
Tamaki Ishima, Natsuka Kimura, Mizuki Kobayashi, et al.
Molecular Genetics and Metabolism Reports
|
March 27, 2023
Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G > A <i>MT-TS2</i> pathogenic variant in a Japanese family
Sayaka Suzuki-Ajihara, Megumi Saito-Tsuruoka, Hiroko Harashima, et al.
Journal of Human Genetics
|
July 22, 2025
Identification of a pathogenic RNU4-2 variant in patients with mitochondrial disease: Broadening the spectrum of non-coding RNA gene variants in mitochondrial dysfunction
Kohta Nakamura, Yoshihito Kishita, Atsuko Imai-Okazaki, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 20, 2003
Thrombocytopenia in patients with 22q11.2 deletion syndrome and its association with glycoprotein Ib-beta
Taichi Kato, Kazuki Kosaka, Misa Kimura, et al.
International Journal of Neonatal Screening
|
August 22, 2025
Prediction of Congenital Portosystemic Shunt in Neonatal Hypergalactosemia Using Gal-1-P/Gal Ratio, Bile Acid, and Ammonia
Sayaka Suzuki-Ajihara, Ikuma Musha, Masato Arao, et al.
Journal of Human Genetics
|
August 8, 2014
A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation
Hirotomo Saitsu, Jun Tohyama, Tom Walsh, et al.
Scientific Reports
|
February 27, 2024
Apomorphine is a potent inhibitor of ferroptosis independent of dopaminergic receptors
Akihiko Miyauchi, Chika Watanabe, Naoya Yamada, et al.
Journal of Human Genetics
|
May 28, 2023
Novel ITPA variants identified by whole genome sequencing and RNA sequencing
Nanako Omichi, Yoshihito Kishita, Mina Nakama, et al.
Page
of 15