Yokohama City University

University / College


Location: Yokohama, Japan (JP) JP

ISNI: 0000000110336139

ROR: https://ror.org/0135d1r83

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Types of publications

Journal article
Book chapter / Article in edited volumes
Authored book
Translation
Thesis
Edited Volume
Conference contribution
Other publication type
Unpublished / Preprint

Publication year

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To

Abstract

Journal

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features (2024) Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, et al. Journal article SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile (2022) Al-Jawahiri R, Foroutan A, Kerkhof J, McConkey H, Levy M, Haghshenas S, Rooney K, et al. Journal article Adrenaline autoinjector is underprescribed in typical cold urticaria patients (2022) Bizjak M, Košnik M, Dinevski D, Thomsen SF, Fomina D, Borzova E, Kulthanan K, et al. Journal article Risk factors for systemic reactions in typical cold urticaria: Results from the COLD-CE study (2021) Bizjak M, Kosnik M, Dinevski D, Thomsen SF, Fomina D, Borzova E, Kulthanan K, et al. Journal article The global impact of the COVID-19 pandemic on the management and course of chronic urticaria (2020) Kocaturk E, Salman A, Cherrez-Ojeda I, Criado PR, Peter J, Comert-Ozer E, Abuzakouk M, et al. Journal article De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features (2020) Lehalle D, Vabres P, Sorlin A, Bierhals T, Avila M, Carmignac V, Chevarin M, et al. Journal article Definition, aims, and implementation of GA2LEN/HAEi Angioedema Centers of Reference and Excellence (2020) Maurer M, Aberer W, Agondi R, Al-Ahmad M, Al-Nesf MA, Ansotegui I, Arnaout R, et al. Journal article De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder (2018) Gregor A, Sadleir LG, Asadollahi R, Azzarello-Burri S, Battaglia A, Ousager LB, Boonsawat P, et al. Journal article Review of renal anastomosing hemangioma with focus on clinical and pathological aspects (2016) Kuroda N, Ohe C, Deepika S, Yorita K, Mikami S, Furuya M, Nagashima Y, et al. Journal article