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Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes.
Published in:
Molecular Medicine, 2019, v. 25, n. 1, p. N.PAG, doi. 10.1186/s10020-019-0073-6
By:
- Begemann, Anaïs;
- Acuña, Mario A.;
- Zweier, Markus;
- Vincent, Marie;
- Steindl, Katharina;
- Bachmann-Gagescu, Ruxandra;
- Hackenberg, Annette;
- Abela, Lucia;
- Plecko, Barbara;
- Kroell-Seger, Judith;
- Baumer, Alessandra;
- Yamakawa, Kazuhiro;
- Inoue, Yushi;
- Asadollahi, Reza;
- Sticht, Heinrich;
- Zeilhofer, Hanns Ulrich;
- Rauch, Anita
Publication type:
Article
Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.
Published in:
2018
By:
- Nahorski, Michael S.;
- Maddirevula, Sateesh;
- Ryosuke Ishimura;
- Alsahli, Saud;
- Brady, Angela F.;
- Begemann, Anaïs;
- Tsunehiro Mizushima;
- Guzmán-Vega, Francisco J.;
- Miki Obata;
- Yoshinobu Ichimura;
- Alsaif, Hessa S.;
- Anazi, Shams;
- Ibrahim, Niema;
- Abdulwahab, Firdous;
- Hashem, Mais;
- Monies, Dorota;
- Abouelhoda, Mohamed;
- Meyer, Brian F.;
- Alfadhel, Majid;
- Eyaid, Wafa
Publication type:
journal article
Cover.
Published in:
Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 5, p. 1, doi. 10.1002/mgg3.2199
By:
- Grether, Anna;
- Ivanovski, Ivan;
- Russo, Martina;
- Begemann, Anaïs;
- Steindl, Katharina;
- Abela, Lucia;
- Papik, Michael;
- Zweier, Markus;
- Oneda, Beatrice;
- Joset, Pascal;
- Rauch, Anita
Publication type:
Article
The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies.
Published in:
Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 5, p. 1, doi. 10.1002/mgg3.2148
By:
- Grether, Anna;
- Ivanovski, Ivan;
- Russo, Martina;
- Begemann, Anaïs;
- Steindl, Katharina;
- Abela, Lucia;
- Papik, Michael;
- Zweier, Markus;
- Oneda, Beatrice;
- Joset, Pascal;
- Rauch, Anita
Publication type:
Article
The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1440, doi. 10.1002/ajmg.a.38143
By:
- Zweier, Markus;
- Peippo, Maarit M.;
- Pöyhönen, Minna;
- Kääriäinen, Helena;
- Begemann, Anaïs;
- Joset, Pascal;
- Oneda, Beatrice;
- Rauch, Anita
Publication type:
Article

Found: 5

Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes.

Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.

Cover.

The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies.

The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B.