鈴木 寿人(スズキ ヒサト)

研究者情報全体を表示

論文

• A patient with compound heterozygosity of SMPD4: Another example of utility of exome-based copy number analysis in autosomal recessive disorders
  Yamada Mamiko; Suzuki Hisato; Shima Taiki; Uehara Tom...
  American journal of medical genetics. Part A/188(2)/pp.613-617, 2022-02-01
  
  PubMed
• Vanishing basal ganglia in ATP1A3-related polymicrogyria
  Ogawa Eri; Sakaguchi Yuri; Enokizono Mikako; Yoshihash...
  American journal of medical genetics. Part A/188(2)/pp.665-667, 2022-02-01
  
  PubMed
• Genome analysis in sick neonates and infants: high-yield phenotypes and contribution of small copy number variations.
  Suzuki Hisato; Nozaki Masatoshi; Yoshihashi Hiroshi; Imag...
  JOURNAL OF PEDIATRICS/244/p.38, 2022-02
  
  PubMed
• Diagnosis of SLC25A46-related pontocerebellar hypoplasia in two siblings with fulminant neonatal course: role of postmortem CT and whole genomic analysis: a case report
  Yamada Mamiko; Suzuki Hisato; Adachi Hiroyuki; Noguchi...
  BMC neurology/22(1)/p.20, 2022-01-10
  
  PubMed
• Ketogenic Diet for KARS-Related Mitochondrial Dysfunction and Progressive Leukodystrophy
  Murofushi Yuka; Hayakawa Itaru; Abe Yuichi; Ohto Tatsuyu...
  NEUROPEDIATRICS/Epub, 2021-08
  
  PubMed