SUZUKI Hisato
- Articles
- Clinical report: Chronic liver dysfunction in an individual with an AMOTL1 variant
Kirino Shizuka; Suzuki Mitsuyoshi; Ogawa Takuya; Takas...
European journal of medical genetics/65(11), 2022-11-01 - De novo non-synonymous CTR9 variants are associated with motor delay and macrocephaly: human genetic and zebrafish experimental evidence
Suzuki Hisato; Aoki Kana; Kurosawa Kenji; Imagawa Kazuo; ...
HUMAN MOLECULAR GENETICS/31(22)/pp.3846-3854, 2022-11 - Deciphering complex rearrangements at the breakpoint of an apparently balanced reciprocal translocation t(4:18)(q31;q11.2)dn and at a cryptic deletion: Further evidence of TLL1 as a causative gene for atrial septal defect
Yamada Mamiko; Suzuki Hisato; Miya Fuyuki; Takenouchi ...
American journal of medical genetics. Part A/188(8)/pp.2472-2478, 2022-08-01 - A familial case of periodontal Ehlers-Danlos syndrome lacking skin extensibility and joint hypermobility with a missense mutation in C1R
Nakajima Kimiko; Suzuki Hisato; Yamamoto Mayuko; Yamam...
The Journal of dermatology/49(7)/pp.714-718, 2022-07-01 - Precocious puberty in a case of Simpson-Golabi-Behmel syndrome with a de novo 240-kb deletion including GPC3
Watanabe Keisuke; Noguchi Atsuko; Takahashi Ikuko; Yam...
Human genome variation/9(1)/p.23, 2022-06-09 - Phenotypic overlap between cardioacrofacial dysplasia-2 and oral-facial-digital syndrome
Yamada Mamiko; Suzuki Hisato; Futagawa Hiroshi; Takeno...
European journal of medical genetics/65(6), 2022-06-01 - RNF213-Associated Vascular Disease: A Concept Unifying Various Vasculopathies
Hiraide Takahiro; Suzuki Hisato; Momoi Mizuki; Shinya ...
Life (Basel, Switzerland)/12(4), 2022-04-08 - The p.Thr395Met missense variant of NFIA found in a patient with intellectual disability is a defective variant
Ogura Yurie; Uehara Tomoko; Ujibe Kota; Yoshihashi Hi...
American journal of medical genetics. Part A/188(4)/pp.1184-1192, 2022-04-01 - TET2 Variants in Japanese Patients With Pulmonary Arterial Hypertension
Hiraide Takahiro; Suzuki Hisato; Shinya Yoshiki; Momoi...
CJC open/4(4)/pp.416-419, 2022-04-01 - Early diagnosis of lateral meningocele syndrome in an infant without neurological symptoms based on genomic analysis
Yamada Mamiko; Arimitsu Takeshi; Suzuki Hisato; Miwa ...
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery/38(3)/pp.659-663, 2022-03-01 - BCS1L mutations produce Fanconi syndrome with developmental disability
Kanako Kojima-Ishii; Sakakibara Nana; Murayama Kei; Na...
Journal of human genetics/67(3)/pp.143-148, 2022-03-01 - Rheumatoid arthritis in a patient with compound heterozygous variants in the COL11A2 gene and progressive hearing loss: A case report
Tsuchida Yumi; Nagafuchi Yasuo; Uehara Tomoko; Suzuki ...
Medicine/101(7), 2022-02-18 - 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 - 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 - 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 - 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 - Ketogenic Diet for KARS-Related Mitochondrial Dysfunction and Progressive Leukodystrophy
Murofushi Yuka; Hayakawa Itaru; Abe Yuichi; Ohto Tatsuyu...
NEUROPEDIATRICS/Epub, 2021-08
- Clinical report: Chronic liver dysfunction in an individual with an AMOTL1 variant