A de novo BCL11B variant case manifesting with dystonic movement disorder regarding the article “BCL11B-related disorder in two canadian children: Expanding the clinical phenotype (Prasad et al., 2020).”

Philip Harrer; Verena Leppmeier; Andrea Berger; Simone Demund; Juliane Winkelmann; Steffen Berweck; Michael Zech

doi:10.1016/j.ejmg.2022.104635

A de novo BCL11B variant case manifesting with dystonic movement disorder regarding the article “BCL11B-related disorder in two canadian children: Expanding the clinical phenotype (Prasad et al., 2020).”

Philip Harrer, Verena Leppmeier, Andrea Berger, Simone Demund, Juliane Winkelmann, Steffen Berweck, Michael Zech

Lehrstuhl für Neurogenetik (2015 — 2023)

Publikation: Beitrag in Fachzeitschrift › Brief › Begutachtung

7 Zitate (Scopus)

Originalsprache	Englisch
Aufsatznummer	104635
Fachzeitschrift	European Journal of Medical Genetics
Jahrgang	65
Ausgabenummer	11
DOIs	https://doi.org/10.1016/j.ejmg.2022.104635
Publikationsstatus	Veröffentlicht - Nov. 2022

Zugriff auf Dokument

10.1016/j.ejmg.2022.104635

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Harrer, P., Leppmeier, V., Berger, A., Demund, S., Winkelmann, J., Berweck, S., & Zech, M. (2022). A de novo BCL11B variant case manifesting with dystonic movement disorder regarding the article “BCL11B-related disorder in two canadian children: Expanding the clinical phenotype (Prasad et al., 2020).”. European Journal of Medical Genetics, 65(11), Artikel 104635. https://doi.org/10.1016/j.ejmg.2022.104635

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title = "A de novo BCL11B variant case manifesting with dystonic movement disorder regarding the article “BCL11B-related disorder in two canadian children: Expanding the clinical phenotype (Prasad et al., 2020).”",

author = "Philip Harrer and Verena Leppmeier and Andrea Berger and Simone Demund and Juliane Winkelmann and Steffen Berweck and Michael Zech",

year = "2022",

month = nov,

doi = "10.1016/j.ejmg.2022.104635",

language = "English",

volume = "65",

journal = "European Journal of Medical Genetics",

issn = "1769-7212",

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Harrer, P, Leppmeier, V, Berger, A, Demund, S, Winkelmann, J, Berweck, S & Zech, M 2022, 'A de novo BCL11B variant case manifesting with dystonic movement disorder regarding the article “BCL11B-related disorder in two canadian children: Expanding the clinical phenotype (Prasad et al., 2020).”', European Journal of Medical Genetics, Jg. 65, Nr. 11, 104635. https://doi.org/10.1016/j.ejmg.2022.104635

A de novo BCL11B variant case manifesting with dystonic movement disorder regarding the article “BCL11B-related disorder in two canadian children: Expanding the clinical phenotype (Prasad et al., 2020).”. / Harrer, Philip; Leppmeier, Verena; Berger, Andrea et al.
in: European Journal of Medical Genetics, Jahrgang 65, Nr. 11, 104635, 11.2022.

Publikation: Beitrag in Fachzeitschrift › Brief › Begutachtung

TY - JOUR

T1 - A de novo BCL11B variant case manifesting with dystonic movement disorder regarding the article “BCL11B-related disorder in two canadian children

T2 - Expanding the clinical phenotype (Prasad et al., 2020).”

AU - Harrer, Philip

AU - Leppmeier, Verena

AU - Berger, Andrea

AU - Demund, Simone

AU - Winkelmann, Juliane

AU - Berweck, Steffen

AU - Zech, Michael

PY - 2022/11

Y1 - 2022/11

UR - https://www.scopus.com/pages/publications/85139361729

U2 - 10.1016/j.ejmg.2022.104635

DO - 10.1016/j.ejmg.2022.104635

M3 - Letter

C2 - 36202297

AN - SCOPUS:85139361729

SN - 1769-7212

VL - 65

JO - European Journal of Medical Genetics

JF - European Journal of Medical Genetics

IS - 11

M1 - 104635

ER -

Harrer P, Leppmeier V, Berger A, Demund S, Winkelmann J, Berweck S et al. A de novo BCL11B variant case manifesting with dystonic movement disorder regarding the article “BCL11B-related disorder in two canadian children: Expanding the clinical phenotype (Prasad et al., 2020).”. European Journal of Medical Genetics. 2022 Nov;65(11):104635. doi: 10.1016/j.ejmg.2022.104635