鈴木 寿人(スズキ ヒサト)
- 論文
- Café-au-lait Spots and Cleft Palate: Not a Chance Association
Yamada Mamiko; Tanito Katsumi; Suzuki Hisato; Nakato ...
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association, 2023-07-14 - Oculofaciocardiodental syndrome caused by a novel BCOR variant
Yamashita Tomoyo; Hotta Junko; Jogu Yukiko; Sakai Eri...
Human genome variation/10(1)/p.18, 2023-06-12 - Parkinsonism in spinocerebellar ataxia with axonal neuropathy caused by adult-onset COA7 variants: a case report
Ouchi Shogo; Ishii Kazuhiro; Kosaki Kenjiro; Suzuki H...
BMC NEUROLOGY/23(1)/p.211, 2023-06-01 - Ketogenic diet in action: Metabolic profiling of pyruvate dehydrogenase deficiency
Ogawa Eri; Hishiki Takako; Hayakawa Noriyo; Suzuki Hi...
Molecular genetics and metabolism reports/35, 2023-06-01 - Involvement of mTOR pathway in neurodegeneration in NSF-related developmental and epileptic encephalopathy
Hayashi Takahiro; Yano Naoko; Kora Kengo; Yokoyama At...
Human molecular genetics/32(10)/pp.1683-1697, 2023-05-05 - Marked hypertriglyceridemia with a novel splicing mutation in GPIHBP1
Kawahara Sakura; Imagawa Kazuo; Suzuki Hisato; Ohto T...
PEDIATRICS INTERNATIONAL/65(1), 2023-04-01 - Oral Baclofen Therapy for Multifocal Spinal Myoclonus with TBC1D24 Variant
Murofushi Yuka; Hayakawa Itaru; Kawai Michiko; Abe Yu...
Movement disorders clinical practice/10(4)/pp.719-721, 2023-04-01 - Precise definition of the breakpoints of an apparently balanced translocation between chromosome 3q26 and chromosome 7q36: Role of KMT2C disruption
Yamada Mamiko; Suzuki Hisato; Miya Fuyuki; Kosugiyama ...
Congenital anomalies, 2023-03-22 - Familial café-au-lait macules associated with in-frame deletion of NF1 p.Met992del mimicking Legius syndrome
Nakato Daisuke; Yamada Mamiko; Suzuki Hisato; Takenouc...
Congenital anomalies/63(2)/pp.54-55, 2023-03-01 - A novel variant of ARPC4-related neurodevelopmental disorder
Kuroda Yukiko; Kumaki Tatsuro; Saito Yoko; Enomoto Yu...
American journal of medical genetics. Part A/191(3)/pp.893-895, 2023-03-01 - Diagnosis of Prader-Willi syndrome and Angelman syndrome by targeted nanopore long-read sequencing
Yamada Mamiko; Okuno Hironobu; Okamoto Nobuhiko; Suzuk...
European journal of medical genetics/66(2), 2023-02-01 - De novo non-synonymous DPYSL2 (CRMP2) variants in two patients with intellectual disabilities and documentation of functional relevance through zebrafish rescue and cellular transfection experiments
Suzuki Hisato; Li Simo; Tokutomi Tomoharu; Takeuchi C...
Human molecular genetics/31(24)/pp.4173-4182, 2022-12-16 - 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 - さらに表示...
- Café-au-lait Spots and Cleft Palate: Not a Chance Association