Works matching IS 10597794 AND DT 2019 AND VI 40 AND IP 3

Results: 14

Corrigendum.
Published in:
Human Mutation, 2019, v. 40, n. 3, p. 357, doi. 10.1002/humu.23711
By:
- Osterbur, Marika L.;
- Zheng, Renjian;
- Marion, Robert;
- Walsh, Christine;
- McDonald, Thomas V.
Publication type:
Article
Corrigendum.
Published in:
Human Mutation, 2019, v. 40, n. 3, p. 355, doi. 10.1002/humu.23710
Publication type:
Article
UVEOGENE: An SNP database for investigations on genetic factors associated with uveitis and their relationship with other systemic autoimmune diseases.
Published in:
Human Mutation, 2019, v. 40, n. 3, p. 258, doi. 10.1002/humu.23702
By:
- Wang, Qingfeng;
- Su, Guannan;
- Tan, Xiao;
- Deng, Jing;
- Du, Liping;
- Huang, Xinyue;
- Lv, Meng;
- Yi, Shenglan;
- Hou, Shengping;
- Kijlstra, Aize;
- Yang, Peizeng
Publication type:
Article
A mutation update for the PCDH19 gene causing early‐onset epilepsy in females with an unusual expression pattern.
Published in:
Human Mutation, 2019, v. 40, n. 3, p. 243, doi. 10.1002/humu.23701
By:
- Niazi, Rojeen;
- Fanning, Elizabeth A.;
- Depienne, Christel;
- Sarmady, Mahdi;
- Abou Tayoun, Ahmad N.
Publication type:
Article
Molecular subtyping of gastric cancer combining genetic and epigenetic anomalies provides distinct clinicopathological features and prognostic impacts.
Published in:
Human Mutation, 2019, v. 40, n. 3, p. 347, doi. 10.1002/humu.23700
By:
- Tahara, Tomomitsu;
- Tahara, Sayumi;
- Horiguchi, Noriyuki;
- Okubo, Masaaki;
- Terada, Tsuyoshi;
- Yamada, Hyuga;
- Yoshida, Dai;
- Omori, Takafumi;
- Osaki, Hayato;
- Maeda, Kohei;
- Kamano, Toshiaki;
- Funasaka, Kohei;
- Nagasaka, Mitsuo;
- Nakagawa, Yoshihito;
- Shibata, Tomoyuki;
- Ohmiya, Naoki
Publication type:
Article
A recurrent mutation in KCNQ4 in Korean families with nonsyndromic hearing loss and rescue of the channel activity by KCNQ activators.
Published in:
Human Mutation, 2019, v. 40, n. 3, p. 335, doi. 10.1002/humu.23698
By:
- Shin, Dong Hoon;
- Jung, Jinsei;
- Koh, Young Ik;
- Rim, John Hoon;
- Lee, Joon Suk;
- Choi, Hye Ji;
- Joo, Sun Young;
- Yu, Seyoung;
- Cha, Do Hyeon;
- Lee, Seung Yeon;
- Lee, Ji Hyun;
- Lee, Min Goo;
- Choi, Jae Young;
- Gee, Heon Yung
Publication type:
Article
Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families.
Published in:
Human Mutation, 2019, v. 40, n. 3, p. 288, doi. 10.1002/humu.23695
By:
- Youssefian, Leila;
- Vahidnezhad, Hassan;
- Saeidian, Amir Hossein;
- Touati, Andrew;
- Sotoudeh, Soheila;
- Mahmoudi, Hamidreza;
- Mansouri, Parvin;
- Daneshpazhooh, Maryam;
- Aghazadeh, Nessa;
- Hesari, Kambiz Kamyab;
- Basiri, Mohammadreza;
- Londin, Eric;
- Kumar, Gaurav;
- Zeinali, Sirous;
- Fortina, Paolo;
- Uitto, Jouni
Publication type:
Article
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.
Published in:
Human Mutation, 2019, v. 40, n. 3, p. 267, doi. 10.1002/humu.23694
By:
- Rehman, Atteeq U.;
- Najafi, Maryam;
- Kambouris, Marios;
- Al‐Gazali, Lihadh;
- Makrythanasis, Periklis;
- Rad, Abolfazl;
- Maroofian, Reza;
- Rajab, Anna;
- Stark, Zornitza;
- Hunter, Jill V.;
- Bakey, Zeineb;
- Tokita, Mari J.;
- He, Weimin;
- Vetrini, Francesco;
- Petersen, Andrea;
- Santoni, Federico A.;
- Hamamy, Hanan;
- Wu, Kaman;
- Al‐Jasmi, Fatma;
- Helmstädter, Martin
Publication type:
Article
The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function.
Published in:
Human Mutation, 2019, v. 40, n. 3, p. 299, doi. 10.1002/humu.23693
By:
- Girisha, Katta M.;
- Elsner, Leonie;
- Neethukrishna, Kausthubham;
- Muranjan, Mamta;
- Shukla, Anju;
- Bhavani, Gandham SriLakshmi;
- Nishimura, Gen;
- Kutsche, Kerstin;
- Mortier, Geert
Publication type:
Article
A de novo pathogenic CSNK1E mutation identified by exome sequencing in family trios with epileptic encephalopathy.
Published in:
Human Mutation, 2019, v. 40, n. 3, p. 281, doi. 10.1002/humu.23690
By:
- Chen, Xiaomin;
- Jin, Jing;
- Wang, Qiongdan;
- Xue, Huangqi;
- Zhang, Na;
- Du, Yaoqiang;
- Zhang, Tao;
- Zhang, Bing;
- Wu, Jinyu;
- Liu, Zhenwei
Publication type:
Article
Issue Information.
Published in:
Human Mutation, 2019, v. 40, n. 3, p. 241, doi. 10.1002/humu.23570
Publication type:
Article
Cover Image, Volume 40, Issue 3.
Published in:
Human Mutation, 2019, v. 40, n. 3, p. i, doi. 10.1002/humu.22892
By:
- Rehman, Atteeq U.;
- Najafi, Maryam;
- Kambouris, Marios;
- Al‐Gazali, Lihadh;
- Makrythanasis, Periklis;
- Rad, Abolfazl;
- Maroofian, Reza;
- Rajab, Anna;
- Stark, Zornitza;
- Hunter, Jill V.;
- Bakey, Zeineb;
- Tokita, Mari J.;
- He, Weimin;
- Vetrini, Francesco;
- Petersen, Andrea;
- Santoni, Federico A.;
- Hamamy, Hanan;
- Wu, Kaman;
- Al‐Jasmi, Fatma;
- Helmstädter, Martin
Publication type:
Article
The effect of premature termination codon mutations on CFTR mRNA abundance in human nasal epithelium and intestinal organoids: a basis for read‐through therapies in cystic fibrosis.
Published in:
Human Mutation, 2019, v. 40, n. 3, p. 326, doi. 10.1002/humu.23692
By:
- Clarke, Luka A.;
- Awatade, Nikhil T.;
- Felício, Veronica M.;
- Silva, Iris A.;
- Calucho, Maite;
- Pereira, Luisa;
- Azevedo, Pilar;
- Cavaco, José;
- Barreto, Celeste;
- Bertuzzo, Carmen;
- Gartner, Silvia;
- Beekman, Jeffrey;
- Amaral, Margarida D.
Publication type:
Article
Lamin A mutation impairs interaction with nucleoporin NUP155 and disrupts nucleocytoplasmic transport in atrial fibrillation.
Published in:
Human Mutation, 2019, v. 40, n. 3, p. 310, doi. 10.1002/humu.23691
By:
- Han, Meng;
- Zhao, Miao;
- Cheng, Chen;
- Huang, Yuan;
- Han, Shengna;
- Li, Wenjuan;
- Tu, Xin;
- Luo, Xuan;
- Yu, Xiaoling;
- Liu, Yinan;
- Chen, Qiuyun;
- Ren, Xiang;
- Wang, Qing Kenneth;
- Ke, Tie
Publication type:
Article