Works matching IS 03406717 AND DT 2020 AND VI 139 AND IP 4

Results: 10

Low-density lipoprotein receptor-related protein 6-mediated signaling pathways and associated cardiovascular diseases: diagnostic and therapeutic opportunities.

Published in:

Human Genetics, 2020, v. 139, n. 4, p. 447, doi. 10.1007/s00439-020-02124-8

By:

Kang, Sheng

Publication type:

Article

Deficiency of SCAMP5 leads to pediatric epilepsy and dysregulation of neurotransmitter release in the brain.

Published in:

Human Genetics, 2020, v. 139, n. 4, p. 545, doi. 10.1007/s00439-020-02123-9

By:

Zhang, Dazhi;
Yuan, Chao;
Liu, Mengxue;
Zhou, Xiaopei;
Ge, Shunnan;
Wang, Xuelian;
Luo, Geng;
Hou, Meiqi;
Liu, Zhenxing;
Wang, Qing K.;
Wang, Xu;
Li, Haohong;
Tan, Yang;
Jia, Weimin;
Wang, Jiarui;
Wu, Yanling;
Wang, Ali;
Yang, Xiaofei;
Zhang, Xianqin

Publication type:

Article

Comprehensive clinically oriented workflow for nucleotide level resolution and interpretation in prenatal diagnosis of de novo apparently balanced chromosomal translocations in their genomic landscape.

Published in:

Human Genetics, 2020, v. 139, n. 4, p. 531, doi. 10.1007/s00439-020-02121-x

By:

David, Dezső;
Freixo, João P.;
Fino, Joana;
Carvalho, Inês;
Marques, Mariana;
Cardoso, Manuela;
Piña-Aguilar, Raul E.;
Morton, Cynthia C.

Publication type:

Article

Concurrent hearing and genetic screening in a general newborn population.

Published in:

Human Genetics, 2020, v. 139, n. 4, p. 521, doi. 10.1007/s00439-020-02118-6

By:

Guo, Ling;
Xiang, Jiale;
Sun, Lei;
Yan, Xinyi;
Yang, Jingjing;
Wu, Haiyan;
Guo, Kejian;
Peng, Jiguang;
Xie, Xiaomei;
Yin, Ye;
Wang, Jian;
Yang, Huanming;
Shen, Jun;
Zhao, Lijian;
Peng, Zhiyu

Publication type:

Article

Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans.

Published in:

Human Genetics, 2020, v. 139, n. 4, p. 513, doi. 10.1007/s00439-020-02117-7

By:

Seidahmed, Mohammed Zain;
Al-Kindi, Adila;
Alsaif, Hessa S.;
Miqdad, Abeer;
Alabbad, Nasser;
Alfifi, Abdallah;
Abdelbasit, Omer Bashir;
Alhussein, Khalid;
Alsamadi, Abdulmohsen;
Ibrahim, Niema;
Al-Futaisi, Amna;
Al-Maawali, Almundher;
Alkuraya, Fowzan S.

Publication type:

Article

De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth.

Published in:

Human Genetics, 2020, v. 139, n. 4, p. 499, doi. 10.1007/s00439-020-02115-9

By:

An, Yu;
Zhang, Linna;
Liu, Wenwen;
Jiang, Yunyun;
Chen, Xue;
Lan, Xiaoping;
Li, Gan;
Hang, Qiang;
Wang, Jian;
Gusella, James F.;
Du, Yasong;
Shen, Yiping

Publication type:

Article

Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies.

Published in:

Human Genetics, 2020, v. 139, n. 4, p. 483, doi. 10.1007/s00439-019-02105-6

By:

Lessel, Ivana;
Chen, Mei-Jan;
Lüttgen, Sabine;
Arndt, Florian;
Fuchs, Sigrid;
Meien, Stefanie;
Thiele, Holger;
Jones, Julie R.;
Shaw, Brandon R.;
Crossman, David K.;
Nürnberg, Peter;
Korf, Bruce R.;
Kubisch, Christian;
Lessel, Davor

Publication type:

Article

Mosaic loss of human Y chromosome: what, how and why.

Published in:

Human Genetics, 2020, v. 139, n. 4, p. 421, doi. 10.1007/s00439-020-02114-w

By:

Guo, Xihan;
Dai, Xueqin;
Zhou, Tao;
Wang, Han;
Ni, Juan;
Xue, Jinglun;
Wang, Xu

Publication type:

Article

Optimized trio genome sequencing (OTGS) as a first-tier genetic test in critically ill infants: practice in China.

Published in:

Human Genetics, 2020, v. 139, n. 4, p. 473, doi. 10.1007/s00439-019-02103-8

By:

Wang, Huijun;
Lu, Yulan;
Dong, Xinran;
Lu, Guoping;
Cheng, Guoqiang;
Qian, Yanyan;
Ni, Qi;
Zhang, Ping;
Yang, Lin;
Wu, Bingbing;
Zhou, Wenhao

Publication type:

Article

A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis.

Published in:

Human Genetics, 2020, v. 139, n. 4, p. 461, doi. 10.1007/s00439-019-02102-9

By:

Arnaud, Pauline;
Racine, Caroline;
Hanna, Nadine;
Thevenon, Julien;
Alessandri, Jean-Luc;
Bonneau, Dominique;
Clayton-Smith, Jill;
Coubes, Christine;
Delobel, Bruno;
Dupuis-Girod, Sophie;
Gouya, Laurent;
Odent, Sylvie;
Carmignac, Virginie;
Thauvin-Robinet, Christel;
Le Goff, Carine;
Jondeau, Guillaume;
Boileau, Catherine;
Faivre, Laurence

Publication type:

Article