Výsledky vyhledávání - "Katrin Drossel"

Combined deletion 18q22.2 and duplication/triplication 18q22.1 causes microcephaly, mental retardation and leukencephalopathy

Autor: Angela M. Kaindl, Imma Rost, Denise Horn, Katrin Drossel, Birgit Spors, Sylvie Nguyen-Minh

Publikováno v: Gene. 523(1)

Chromosome 18 abnormalities rank among the most common autosomal anomalies with 18q being the most frequently affected. A deletion of 18q has been attributed to microcephaly, mental retardation, short stature, facial dysmorphism, myelination disorder

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8631e5553d1817cd90601b6d360f4b90
https://pubmed.ncbi.nlm.nih.gov/23566840

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Angelman syndrome and severe infections in a patient with de novo 15q11.2-q13.1 deletion and maternally inherited 2q21.3 microdeletion

Autor: Gerda Neubert, Angela M. Kaindl, Andreas Tzschach, Katrin Drossel, Renate Nickel, Katja von Au, Denise Horn

Publikováno v: Gene. 512(2)

Angelman syndrome is a neurodevelopmental disorder characterized by mental retardation, severe speech disorder, facial dysmorphism, secondary microcephaly, ataxia, seizures, and abnormal behaviors such as easily provoked laughter. It is most frequent

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a88ac5c38a44324bd0147074bc2e69ef
https://pubmed.ncbi.nlm.nih.gov/23124039

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