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Eine de novo Missense Mutation im Gen Chromodomain Helicase DNA binding protein 8 (CHD8): eine neue Assoziation mit einem kongenitalen Myasthenie-Syndrom ; A de novo missense mutation in the chromodomain helicase DNA-binding protein 8 (CHD8) gene: a novel association with congenital myasthenic syndrome

• Authors : Lee, Chae-Young;

Subjects: congenital myasthenic syndrome; overgrowth; macrocephaly

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[There is something amiss].

• Authors : Kolev M; Universitätsklinik für Allgemeine Innere Medizin, Inselspital, Bern.; Oppliger S

Subjects: Carcinoma, Small Cell/Carcinoma, Small Cell/Carcinoma, Small Cell/*diagnosis ; Gait Ataxia/Gait Ataxia/Gait Ataxia/*etiology ; Inappropriate ADH Syndrome/Inappropriate ADH Syndrome/Inappropriate ADH Syndrome/*diagnosis

• Source: Praxis [Praxis (Bern 1994)] 2013 Jan 16; Vol. 102 (2), pp. 111-3.Publisher: Aerzteverlag medinfo AG Country of Publication: Switzerland NLM ID: 101468093 Publication Model: Print Cited Medium: Print ISSN:

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Neuromuskuläre Irrwege.

• Authors : Kolev, M.; Oppliger, S.; Jung, S.

Subjects: GAIT disorders; DISEASE progression; LAMBERT-Eaton myasthenic syndrome

• Source: Praxis (16618157); 1/16/2013, Vol. 102 Issue 2, p111-113, 3p

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Choline-related-inherited metabolic diseases - A mini review.

• Authors : Wortmann, S.B.; Mayr, J.A.

Subjects: Choline; Epilepsy; Fish Odor Disease

• Source: J. Inherit. Metab. Dis. 42, 237-242 (2019)

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Modulation der Aktivität des nikotinischen Acetylcholinrezeptors in transgenen Tiermodellen

• Authors : Peter, Jan Christoph

Subjects: 570 Life sciences

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