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List of works by Yumi Enomoto

A female patient with X-linked Ohdo syndrome of the Maat-Kievit-Brunner phenotype caused by a novel variant of MED12

scientific article published on 19 July 2019

A novel SYNGAP1 variant in a patient with intellectual disability and distinctive dysmorphisms.

scientific article

A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia

scientific article published on 11 April 2019

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

scientific article published on 25 March 2018

Novel AMER1 frameshift mutation in a girl with osteopathia striata with cranial sclerosis

scientific article published on 9 October 2017

Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly.

scientific article

Siblings with vascular Ehlers-Danlos syndrome inherited via maternal mosaicism

scientific article published on 27 December 2020

Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome

scientific article published on 17 August 2020

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