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Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder.
Ohori, Sachiko; Tsuburaya, Rie S; Kinoshita, Masako; Miyagi, Etsuko; Mizuguchi, Takeshi; Mitsuhashi, Satomi; Frith, Martin C; Matsumoto, Naomichi.
Affiliation
  • Ohori S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
  • Tsuburaya RS; Department of Obstetrics and Gynecology, Yokohama City University School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, Kanagawa, 236-0004, Japan.
  • Kinoshita M; Department of Pediatric Neurology, National Hospital Organization Utano National Hospital, 8 Ondoyamacho, Ukyo-ku, Kyoto, 616-8255, Japan.
  • Miyagi E; Department of Neurology, National Hospital Organization Utano National Hospital, 8 Ondoyamacho, Ukyo-ku, Kyoto, 616-8255, Japan.
  • Mizuguchi T; Department of Obstetrics and Gynecology, Yokohama City University School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, Kanagawa, 236-0004, Japan.
  • Mitsuhashi S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
  • Frith MC; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
  • Matsumoto N; Artificial Intelligence Research Center, National Institute of Advanced Industrial Science and Technology (AIST), Koto-ku, Tokyo, Japan.
J Hum Genet ; 66(7): 697-705, 2021 Jul.
Article de En | MEDLINE | ID: mdl-33510365
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Prédisposition génétique à une maladie / Protéines de liaison à l'ADN / Troubles du développement neurologique Type d'étude: Prognostic_studies Limites: Adult / Humans / Male Langue: En Journal: J Hum Genet Sujet du journal: GENETICA MEDICA Année: 2021 Type de document: Article Pays d'affiliation: Japon
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Prédisposition génétique à une maladie / Protéines de liaison à l'ADN / Troubles du développement neurologique Type d'étude: Prognostic_studies Limites: Adult / Humans / Male Langue: En Journal: J Hum Genet Sujet du journal: GENETICA MEDICA Année: 2021 Type de document: Article Pays d'affiliation: Japon