Hirotomo Saitsu

Hamamatsu University School of Medicine

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Articles (21)

Collaborators (7)

Yoshihiro Hotta

Hamamatsu University School of Medicine

kei mizobuchi

Jikei University School of Medicine

Tenpei Akita

Hamamatsu Ika Daigaku

Tomohiko Nakamura

Mitsuhiro Kato

Showa University

Hitoshi Osaka

Jichi Medical University

Tsutomu Ogata

Hamamatsu University School of Medicine

Hirotomo Saitsu

Research Interests

Explore related searches

Contact this professor

Articles (21)

Collaborators (7)

Yoshihiro Hotta

kei mizobuchi

Tenpei Akita

Tomohiko Nakamura

Mitsuhiro Kato

Hitoshi Osaka

Tsutomu Ogata

How do I reach out?

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Hirotomo Saitsu

Research Interests

Explore related searches

Contact this professor

Articles (21)

Novel biallelic CDK9 variants are associated with retinal dystrophy without CHARGE-like malformation syndrome

A Japanese familial spastic paraplegia associated with a missense UBQLN2 variant

Symmetrical Acrokeratoderma in a Japanese Patient With Two FLG Nonsense Variants

Immunohistochemical and molecular evolutionary features of jejunoileal adenocarcinoma unveiled through comparative analysis with colorectal adenocarcinoma

Compound heterozygous ZNF335 variants in a patient with microcephaly, refractory epilepsy, and severe developmental delay: A case report and literature review

Splicing variant of WDR37 in a case of Neurooculocardiogenitourinary syndrome

Homozygous Microdeletion Involving Exon 1 of ERCC8 and NDUFAF2 With Uniparental Isodisomy of Chromosome 5

A novel heterozygous TMEM63A variant in a familial case with early onset nystagmus, severe hypomyelination, and a favorable adult prognosis

TBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosis

A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome

De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalities

A novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcome

The Structural Abnormalities Are Deeply Involved in the Cause of RPGRIP1-Related Retinal Dystrophy in Japanese Patients

A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN gene

A case of infantile spasms with three possibly pathogenic de novo missense variants in NF1 and GABBR1

ACAN biallelic variants in a girl with severe idiopathic short stature

Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing

A New Case With Cortical Malformation Caused by Biallelic Variants in LAMC3

Cognitive Impairment in a Complex Family With AAGGG and ACAGG Repeat Expansions in RFC1 Detected by ExpansionHunter Denovo

The ATRX splicing variant c.21-1G>A is asymptomatic

A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia

Collaborators (7)

Yoshihiro Hotta

kei mizobuchi

Tenpei Akita

Tomohiko Nakamura

Mitsuhiro Kato

Hitoshi Osaka

Tsutomu Ogata

How do I reach out?

Meet Kite AI