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Academic Journal

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.

Authors : Hengel, Holger; Bosso-Lefèvre, Célia; Grady, George

Subjects: Organoids; Animals; Zebrafish

Source: Nature communications. 11(1)

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Academic Journal

Correction to: First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery.

Authors : Hengel, Holger; Buchert, Rebecca; Falana, Mohammed

Subjects: info:eu-repo/classification/ddc/610DE

Source: European journal of human genetics 30(2), 248 (2022). doi:10.1038/s41431-021-00909-7

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Academic Journal

Correction to: First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery

Authors : Hengel, Holger; Buchert, Rebecca; Sturm, Marc

Subjects: Genetics (clinical); Genetics

Source: European Journal of Human Genetics ; volume 30, issue 2, page 248-248 ; ISSN 1018-4813 1476-5438

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Academic Journal

First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery

Authors : Hengel, Holger; Buchert, Rebecca; Sturm, Marc

Subjects: Genetic Predisposition to Disease [MeSH]; Female [MeSH]; Humans [MeSH]

Source: http://lobid.org/resources/99370671030206441#!, 28(8):1034-1043.

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Academic Journal

Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy

Authors : Feichtinger, René G.; Mucha, Bettina E.; Hengel, Holger ...

Subjects: Genetics (clinical)

Source: Genetics in Medicine ; volume 21, issue 11, page 2521-2531 ; ISSN 1098-3600

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Academic Journal

Effectiveness of antiepileptic therapy in patients with PCDH19 mutations

Authors : Lotte, Jan; Bast, Thomas; Borusiak, Peter

Subjects: PCDH19 mutation; Epilepsy; Antiepileptic drugs

Source: Lotte , J , Bast , T , Borusiak , P , Coppola , A , Cross , J H , Dimova , P , Fogarasi , A , Graness , I , Guerrini , R , Hjalgrim , H , Keimer , R , Korff , C M ,

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