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Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 135, doi. 10.1002/ajmg.a.63004
By:
- Maia, Nuno;
- Ibarluzea, Nekane;
- Misra‐Isrie, Mala;
- Koboldt, Daniel C.;
- Marques, Isabel;
- Soares, Gabriela;
- Santos, Rosário;
- Marcelis, Carlo L. M.;
- Keski‐Filppula, Riikka;
- Guitart, Miriam;
- Gabau Vila, Elisabeth;
- Lehman, April;
- Hickey, Scott;
- Mori, Mari;
- Terhal, Paulien;
- Valenzuela, Irene;
- Lasa‐Aranzasti, Amaia;
- Cueto‐González, Anna Maria;
- Chhouk, Brian H.;
- Yeh, Rebecca C.
Publication type:
Article
Weak genetic signal for phenotypic integration implicates developmental processes as major regulators of trait covariation.
Published in:
Molecular Ecology, 2021, v. 30, n. 2, p. 464, doi. 10.1111/mec.15748
By:
- Conith, Andrew J.;
- Hope, Sylvie A.;
- Chhouk, Brian H.;
- Craig Albertson, R.
Publication type:
Article
Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy.
Published in:
JAMA Neurology, 2023, v. 80, n. 6, p. 578, doi. 10.1001/jamaneurol.2023.0473
By:
- Khoshkhoo, Sattar;
- Wang, Yilan;
- Chahine, Yasmine;
- Erson-Omay, E. Zeynep;
- Robert, Stephanie M.;
- Kiziltug, Emre;
- Damisah, Eyiyemisi C.;
- Nelson-Williams, Carol;
- Zhu, Guangya;
- Kong, Wenna;
- Huang, August Yue;
- Stronge, Edward;
- Phillips, H. Westley;
- Chhouk, Brian H.;
- Bizzotto, Sara;
- Chen, Ming Hui;
- Adikari, Thiuni N.;
- Ye, Zimeng;
- Witkowski, Tom;
- Lai, Dulcie
Publication type:
Article

Found: 3

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.

Weak genetic signal for phenotypic integration implicates developmental processes as major regulators of trait covariation.

Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy.