Works matching IS 03406717 AND DT 2023 AND VI 142 AND IP 12

Results: 8

Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants.
Published in:
Human Genetics, 2023, v. 142, n. 12, p. 1755, doi. 10.1007/s00439-023-02613-6
By:
- Tokatly Latzer, Itay;
- Roullet, Jean-Baptiste;
- Cesaro, Samuele;
- DiBacco, Melissa L.;
- Arning, Erland;
- Rotenberg, Alexander;
- Lee, Henry H. C.;
- Opladen, Thomas;
- Jeltsch, Kathrin;
- García-Cazorla, Àngels;
- Juliá-Palacios, Natalia;
- Gibson, K. Michael;
- Bertoldi, Mariarita;
- Pearl, Phillip L.
Publication type:
Article
Genetic spectrums and clinical profiles of critically ill neonates with congenital auricular deformity in the China Neonatal Genomes Project.
Published in:
Human Genetics, 2023, v. 142, n. 12, p. 1737, doi. 10.1007/s00439-023-02612-7
By:
- Xiao, Feifan;
- Wu, Bingbing;
- Dong, Chenbin;
- Cheng, Guoqiang;
- Cao, Yun;
- Wang, Laishuan;
- Dong, Xinran;
- Lu, Yulan;
- Yang, Lin;
- Chen, Liping;
- Li, Long;
- Pan, Xinnian;
- Wei, Qiufen;
- Zhuang, Deyi;
- Chen, Dongmei;
- Yin, Zhaoqing;
- Ni, Qi;
- Liu, Rencao;
- Xu, Suzhen;
- Li, Gang
Publication type:
Article
Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage.
Published in:
Human Genetics, 2023, v. 142, n. 12, p. 1747, doi. 10.1007/s00439-023-02611-8
By:
- Martins, Sandra;
- Yahia, Ashraf;
- Costa, Inês P. D.;
- Siddig, Hassab E.;
- Abubaker, Rayan;
- Koko, Mahmoud;
- Corral-Juan, Marc;
- Matilla-Dueñas, Antoni;
- Brice, Alexis;
- Durr, Alexandra;
- Leguern, Eric;
- Ranum, Laura P. W.;
- Amorim, António;
- Elsayed, Liena E. O.;
- Stevanin, Giovanni;
- Sequeiros, Jorge
Publication type:
Article
CRISPR/Cas-based gene editing in therapeutic strategies for beta-thalassemia.
Published in:
Human Genetics, 2023, v. 142, n. 12, p. 1677, doi. 10.1007/s00439-023-02610-9
By:
- Zeng, Shujun;
- Lei, Shuangyin;
- Qu, Chao;
- Wang, Yue;
- Teng, Shuzhi;
- Huang, Ping
Publication type:
Article
KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster.
Published in:
Human Genetics, 2023, v. 142, n. 12, p. 1705, doi. 10.1007/s00439-023-02608-3
By:
- Singh, Meghna;
- Spendlove, Sarah J.;
- Wei, Angela;
- Bondhus, Leroy M.;
- Nava, Aileen A.;
- de L. Vitorino, Francisca N.;
- Amano, Seth;
- Lee, Jacob;
- Echeverria, Gesenia;
- Gomez, Dianne;
- Garcia, Benjamin A.;
- Arboleda, Valerie A.
Publication type:
Article
Functional implications of paralog genes in polyglutamine spinocerebellar ataxias.
Published in:
Human Genetics, 2023, v. 142, n. 12, p. 1651, doi. 10.1007/s00439-023-02607-4
By:
- Felício, Daniela;
- du Mérac, Tanguy Rubat;
- Amorim, António;
- Martins, Sandra
Publication type:
Article
Understanding the pathogenesis of brain arteriovenous malformation: genetic variations, epigenetics, signaling pathways, and immune inflammation.
Published in:
Human Genetics, 2023, v. 142, n. 12, p. 1633, doi. 10.1007/s00439-023-02605-6
By:
- Wang, Shiyi;
- Deng, Xinpeng;
- Wu, Yuefei;
- Wu, Yiwen;
- Zhou, Shengjun;
- Yang, Jianhong;
- Huang, Yi
Publication type:
Article
Comprehensive evaluation of the implementation of episignatures for diagnosis of neurodevelopmental disorders (NDDs).
Published in:
Human Genetics, 2023, v. 142, n. 12, p. 1721, doi. 10.1007/s00439-023-02609-2
By:
- Giuili, Edoardo;
- Grolaux, Robin;
- Macedo, Catarina Z. N. M.;
- Desmyter, Laurence;
- Pichon, Bruno;
- Neuens, Sebastian;
- Vilain, Catheline;
- Olsen, Catharina;
- Van Dooren, Sonia;
- Smits, Guillaume;
- Defrance, Matthieu
Publication type:
Article