Search Results - "Okamoto, Nobuhiko"

Safety and short‐term outcomes of robotic‐assisted transabdominal preperitoneal repair for inguinal hernia in pioneering hospitals in Japan: A nationwide retrospective cohort study.

Authors: Okamoto, Nobuhiko Misawa, Takeyuki Shimada, Gen et al.

Source: Asian Journal of Endoscopic Surgery. Jan2024, Vol. 17 Issue 1, p1-8. 8p.

Biallelic structural variants in three patients with ERCC8-related Cockayne syndrome and a potential pitfall of copy number variation analysis.

Authors: Watanabe, Daisuke Okamoto, Nobuhiko Kobayashi, Yuichi et al.

Source: Scientific Reports. 8/26/2024, Vol. 14 Issue 1, p1-10. 10p.

A Patient With Intellectual Disability, Agenesis of Corpus Callosum, and Congenital Heart Disease Associated With Chromosome 10p11.2 Microdeletion.

Authors: Okamoto, Nobuhiko Nishi, Eriko Hasegawa, Yuiko et al.

Source: American Journal of Medical Genetics. Part A; Jun2026, Vol. 200 Issue 6, p1388-1395, 8p

Diagnostic utility of single-locus DNA methylation mark in Sotos syndrome developed by nanopore sequencing-based episignature.

Authors: Mizuguchi, Takeshi Okamoto, Nobuhiko Hara, Taiki et al.

Source: Clinical Epigenetics. 2/18/2025, Vol. 17 Issue 1, p1-16. 16p.

A Case of Mesangial Proliferative Nephritis Caused by Slow Cryoglobulin.

Authors: Hashimoto, Seiji Okamoto, Nobuhiko Maoka, Tomochika et al.

Source: Case Reports in Nephrology & Dialysis. 2023, Vol. 13 Issue 1, p120-128. 9p.

First Reported Case of CLN5 Disease in Japan: Identification of a Novel Homozygous Pathogenic Variant Through Whole Genome Sequencing.

Authors: Nishi, Eriko Yanagi, Kumiko Shima, Morimasa et al.

Source: Clinical Case Reports. Jan2026, Vol. 14 Issue 1, p1-8. 8p.

A Clinical Study of Nine Patients With ReNU Syndrome.

Authors: Okamoto, Nobuhiko Nishi, Eriko Hasegawa, Yuiko et al.

Source: American Journal of Medical Genetics. Part A; Nov2025, Vol. 197 Issue 11, p1-8, 8p

Unique DUP‐TRP/INV‐DUP Structure Detected by Long‐Read Sequencing.

Authors: Shimomura, Rina Shimojima Yamamoto, Keiko Nakano, Mutsuki et al.

Source: American Journal of Medical Genetics. Part A; Jul2025, Vol. 197 Issue 7, p1-7, 7p

Four pedigrees with aminoacyl-tRNA synthetase abnormalities.

Authors: Okamoto, Nobuhiko Miya, Fuyuki Tsunoda, Tatsuhiko et al.

Source: Neurological Sciences. Apr2022, Vol. 43 Issue 4, p2765-2774. 10p. 3 Black and White Photographs, 1 Chart.

Clinical Features of a Japanese Girl With Radio‐Tartaglia Syndrome due to a SPEN Truncating Variant.

Authors: Nishi, Eriko Yanagi, Kumiko Okamoto, Nobuhiko et al.

Source: American Journal of Medical Genetics. Part A; Mar2025, Vol. 197 Issue 3, p1-5, 5p

Author Index: International Journal of Urology 2005.

Source: International Journal of Urology. Dec2005, Vol. 12 Issue 12, p1089-1097. 9p.

Biallelic loss‐of‐function variants of EZH1 cause a novel developmental disorder with central precocious puberty.

Authors: Okamoto, Nobuhiko Yoshida, Sayaka Ogitani, Ayako et al.

Source: American Journal of Medical Genetics. Part A; Oct2024, Vol. 194 Issue 10, p1-6, 6p

Publisher Correction: A novel NONO variant that causes developmental delay and cardiac phenotypes.

Authors: Itai, Toshiyuki Sugie, Atsushi Nitta, Yohei et al.

Source: Scientific Reports. 3/9/2023, Vol. 13 Issue 1, p1-1. 1p.

Craniosynostosis in molecularly diagnosed Kabuki syndrome: Prevalence and clinical implications.

Authors: Nishi, Eriko Miyake, Noriko Kawamura, Rie et al.

Source: American Journal of Medical Genetics. Part A; Feb2024, Vol. 194 Issue 2, p268-278, 11p

Triple repeated fetal congenital heart disease linked to PLD1 mutation: a case report.

Authors: Masuda, Yuki Nagayasu, Yoko Murakami, Hikaru et al.

Source: Journal of Medical Case Reports. 9/29/2023, Vol. 17 Issue 1, p1-7. 7p.

Homozygous ADCY5 mutation causes early-onset movement disorder with severe intellectual disability.

Authors: Okamoto, Nobuhiko Miya, Fuyuki Kitai, Yukihiro et al.

Source: Neurological Sciences. Jul2021, Vol. 42 Issue 7, p2975-2978. 4p. 2 Graphs.

Subjects: Disabilities, Intellectual disabilities, Movement disorders, Huntington disease, Child patients, Dyskinesias

Time course of serum neuron‐specific enolase levels from infancy to early adulthood in a female patient with beta‐propeller protein‐associated neurodegeneration.

Authors: Hirano, Shodo Suzuki, Yasuhiro Ikeda, Tae et al.

Source: American Journal of Medical Genetics. Part A; May2023, Vol. 191 Issue 5, p1384-1387, 4p

Interstitial microdeletions of 3q26.2q26.31 in two patients with neurodevelopmental delay and distinctive features.

Authors: Tamura, Takeaki Yamamoto Shimojima, Keiko Shiihara, Takashi et al.

Source: American Journal of Medical Genetics. Part A; Feb2023, Vol. 191 Issue 2, p400-407, 8p

Long‐read sequence analysis for clustered genomic copy number aberrations revealed architectures of intricately intertwined rearrangements.

Authors: Tamura, Takeaki Yamamoto Shimojima, Keiko Okamoto, Nobuhiko et al.

Source: American Journal of Medical Genetics. Part A; Jan2023, Vol. 191 Issue 1, p112-119, 8p

A case of congenital hypopituitarism harboring a nonsense variant in the LHX4 gene.

Authors: Koizumi, Mikiko Etani, Yuri Kinoshita, Saori et al.

Source: Clinical Pediatric Endocrinology. 2025, Vol. 34 Issue 3, p200-203. 4p.