Kazumi Ida

发表

Haploinsufficiency of BCL11A associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome

S. Mizuno, K. Kurosawa, Hiroko Shimbo, 2017, Molecular genetics & genomic medicine.

Delineation of the KIAA2022 mutation phenotype: Two patients with X‐linked intellectual disability and distinctive features

Y. Kuroda, K. Kurosawa, J. Nagai, 2015, American journal of medical genetics. Part A.

Microdeletion of 19p13.3 in a girl with Peutz–Jeghers syndrome, intellectual disability, hypotonia, and distinctive features

Y. Kuroda, K. Kurosawa, J. Nagai, 2015, American journal of medical genetics. Part A.

De novo duplication of 17p13.1–p13.2 in a patient with intellectual disability and obesity

Y. Kuroda, K. Kurosawa, J. Nagai, 2014, American journal of medical genetics. Part A.

Familial total anomalous pulmonary venous return with 15q11.2 (BP1-BP2) microdeletion

Y. Kuroda, K. Kurosawa, J. Nagai, 2018, Journal of Human Genetics.

Deletion of UBE3A in brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2

Y. Kuroda, K. Kurosawa, J. Nagai, 2014, American journal of medical genetics. Part A.

Divergent variant patterns among 19 patients with Rubinstein‐Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing

Y. Tsurusaki, J. Mitsui, Y. Kuroda, 2021, Clinical genetics.

Live functional assays reveal longitudinal maturation of transepithelial transport in kidney organoids

L. Satlin, Kazumi Ida, Ryuji Morizane, 2022, Frontiers in Cell and Developmental Biology.

CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability.

S. Tsuji, S. Morishita, Y. Tsurusaki, 2018, European journal of medical genetics.

Evaluation of a patient with classical Ehlers‐Danlos syndrome due to a 9q34 duplication affecting COL5A1

Y. Kuroda, K. Kurosawa, J. Nagai, 2018, Congenital Anomalies.

Familial total anomalous pulmonary venous return with 15q11.2 (BP1-BP2) microdeletion

Y. Kuroda, K. Kurosawa, J. Nagai, 2018, Journal of Human Genetics.

Mosaicism of a Truncating Variant of CASK Causes Congenital Heart Disease and Neurodevelopmental Disorder

K. Kurosawa, Takayuki Yokoi, Kazumi Ida, 2022, Molecular Syndromology.

De novo duplication of 17p13.1–p13.2 in a patient with intellectual disability and obesity

Y. Kuroda, K. Kurosawa, J. Nagai, 2014, American journal of medical genetics. Part A.

Delineation of the KIAA2022 mutation phenotype: Two patients with X‐linked intellectual disability and distinctive features

Y. Kuroda, K. Kurosawa, J. Nagai, 2015, American journal of medical genetics. Part A.