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De novo variants in <italic>KLF7</italic> are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms.
Published in:
Clinical Genetics, 2018, v. 93, n. 5, p. 1030, doi. 10.1111/cge.13198
By:
- Powis, Z.;
- Petrik, I.;
- Huether, R.;
- Tang, S.;
- Shinde, D. N.;
- Cohen, J. S.;
- Escolar, D.;
- Burton, J.;
- van Ravenswaaij‐Arts, C. M. A.;
- Sival, D. A.;
- Kleefstra, T.;
- Pfundt, R.;
- Stegmann, A. P. A.;
- Chikarmane, R.;
- Begtrup, A.
Publication type:
Article
Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.
Published in:
Clinical Genetics, 2017, v. 91, n. 5, p. 697, doi. 10.1111/cge.12861
By:
- Cohen, J.S.;
- Srivastava, S.;
- Farwell Hagman, K.D.;
- Shinde, D.N.;
- Huether, R.;
- Darcy, D.;
- Wallerstein, R.;
- Houge, G.;
- Berland, S.;
- Monaghan, K.G.;
- Poretti, A.;
- Wilson, A.L.;
- Chung, W.K.;
- Fatemi, A.
Publication type:
Article
Beyond DNA: An Integrated and Functional Approach for Classifying Germline Variants in Breast Cancer Genes.
Published in:
International Journal of Breast Cancer, 2016, p. 1, doi. 10.1155/2016/2469523
By:
- Pesaran, T.;
- Karam, R.;
- Huether, R.;
- Li, S.;
- Farber-Katz, S.;
- Chamberlin, A.;
- Chong, H.;
- LaDuca, H.;
- Elliott, A.
Publication type:
Article
Susceptibility of Fish and Turtles to Three Ranaviruses Isolated from Different Ectothermic Vertebrate Classes.
Published in:
Journal of Aquatic Animal Health, 2014, v. 26, n. 2, p. 118, doi. 10.1080/08997659.2014.886637
By:
- Brenes, Roberto;
- Miller, Debra L.;
- Waltzek, Thomas. B.;
- Wilkes, Rebecca P.;
- Tucker, Jennifer L.;
- Chaney, Jordan C.;
- Hardman, Rebecca H.;
- Brand, Mabre D.;
- Huether, Rebecca R.;
- Gray, Matthew J.
Publication type:
Article

Found: 4

De novo variants in <italic>KLF7</italic> are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms.

Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.

Beyond DNA: An Integrated and Functional Approach for Classifying Germline Variants in Breast Cancer Genes.

Susceptibility of Fish and Turtles to Three Ranaviruses Isolated from Different Ectothermic Vertebrate Classes.