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Potassium dependent rescue of a myopathy with core-like structures in mouse.
Published in:
eLife, 2015, p. 1, doi. 10.7554/eLife.02923.001
By:
- Hanson, M. Gartz;
- Wilde, Jonathan J.;
- Moreno, Rosa L.;
- Minic, Angela D.;
- Niswander, Lee
Publication type:
Article
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2113, doi. 10.1002/ajmg.a.63247
By:
- Kaur, Maninder;
- Blair, Justin;
- Devkota, Batsal;
- Fortunato, Sierra;
- Clark, Dinah;
- Lawrence, Audrey;
- Kim, Jiwoo;
- Do, Wonwook;
- Semeo, Benjamin;
- Katz, Olivia;
- Mehta, Devanshi;
- Yamamoto, Nobuko;
- Schindler, Emma;
- Al Rawi, Zayd;
- Wallace, Nina;
- Wilde, Jonathan J.;
- McCallum, Jennifer;
- Liu, Jinglan;
- Xu, Dongbin;
- Jackson, Marie
Publication type:
Article
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 11, p. 2888
By:
- Kaiser, Frank J.;
- Ansari, Morad;
- Braunholz, Diana;
- Concepción Gil-Rodríguez, María;
- Decroos, Christophe;
- Wilde, Jonathan J.;
- Fincher, Christopher T.;
- Kaur, Maninder;
- Bando, Masashige;
- Amor, David J.;
- Atwal, Paldeep S.;
- Bahlo, Melanie;
- Bowman, Christine M.;
- Bradley, Jacquelyn J.;
- Brunner, Han G.;
- Clark, Dinah;
- Del Campo, Miguel;
- Di Donato, Nataliya;
- Diakumis, Peter;
- Dubbs, Holly
Publication type:
Article
Diencephalic Size Is Restricted by a Novel Interplay Between GCN5 Acetyltransferase Activity and Retinoic Acid Signaling.
Published in:
Journal of Neuroscience, 2017, v. 37, n. 10, p. 2565, doi. 10.1523/JNEUROSCI.2121-16.2017
By:
- Wilde, Jonathan J.;
- Siegenthaler, Julie A.;
- Dent, Sharon Y. R.;
- Niswander, Lee A.
Publication type:
Article
Multiplex precise base editing in cynomolgus monkeys.
Published in:
Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-16173-0
By:
- Zhang, Wenhui;
- Aida, Tomomi;
- del Rosario, Ricardo C. H.;
- Wilde, Jonathan J.;
- Ding, Chenhui;
- Zhang, Xiaohui;
- Baloch, Zulqurain;
- Huang, Yan;
- Tang, Yu;
- Li, Duanduan;
- Lu, Hongyu;
- Zhou, Yang;
- Jiang, Minqing;
- Xu, Dongdong;
- Fang, Zhihao;
- Zheng, Zhanhong;
- Huang, Qunshan;
- Feng, Guoping;
- Yang, Shihua
Publication type:
Article

Found: 5

Potassium dependent rescue of a myopathy with core-like structures in mouse.

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms.

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Diencephalic Size Is Restricted by a Novel Interplay Between GCN5 Acetyltransferase Activity and Retinoic Acid Signaling.

Multiplex precise base editing in cynomolgus monkeys.