Works matching IS 00099163 AND DT 2019 AND VI 96 AND IP 1

Results: 14

Identification of SLC20A2 deletions in patients with primary familial brain calcification.

Published in:

Clinical Genetics, 2019, v. 96, n. 1, p. 53, doi. 10.1111/cge.13540

By:

Guo, Xin‐Xin;
Su, Hui‐Zhen;
Zou, Xiao‐Huan;
Lai, Lu‐Lu;
Lu, Ying‐Qian;
Wang, Chong;
Li, Yun‐Lu;
Hong, Jing‐Mei;
Zhao, Miao;
Lin, Kun‐Xin;
Lin, Jie;
Zeng, Yi‐Heng;
Yao, Xiang‐Ping;
Wang, Ning;
Chen, Wan‐Jin

Publication type:

Article

The clinical presentation caused by truncating CHD8 variants.

Published in:

Clinical Genetics, 2019, v. 96, n. 1, p. 72, doi. 10.1111/cge.13554

By:

Douzgou, Sofia;
Liang, Hui Wen;
Metcalfe, Kay;
Somarathi, Suresh;
Tischkowitz, Marc;
Mohamed, Wafik;
Kini, Usha;
McKee, Shane;
Yates, Laura;
Bertoli, Marta;
Lynch, Sally Ann;
Holder, Susan;
Banka, Siddharth

Publication type:

Article

Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia.

Published in:

Clinical Genetics, 2019, v. 96, n. 1, p. 102, doi. 10.1111/cge.13550

By:

Leoni, Chiara;
Onesimo, Roberta;
Resta, Nicoletta;
Patti, Maria L.;
De Santis, Rita;
Bagnulo, Rosanna;
Russo, Luca;
Manfredi, Riccardo;
Genuardi, Maurizio;
Zampino, Giuseppe

Publication type:

Article

Whole‐exome sequencing identified ARL2 as a novel candidate gene for MRCS (microcornea, rod‐cone dystrophy, cataract, and posterior staphyloma) syndrome.

Published in:

Clinical Genetics, 2019, v. 96, n. 1, p. 61, doi. 10.1111/cge.13541

By:

Cai, Xue‐Bi;
Wu, Kun‐Chao;
Zhang, Xiao;
Lv, Ji‐Neng;
Jin, Guang‐Hui;
Xiang, Lue;
Chen, Jie;
Huang, Xiu‐Feng;
Pan, Deng;
Lu, Bin;
Lu, Fan;
Qu, Jia;
Jin, Zi‐Bing

Publication type:

Article

Front Cover.

Published in:

Clinical Genetics, 2019, v. 96, n. 1, p. i, doi. 10.1111/cge.13584

By:

Cai, Xue‐Bi;
Wu, Kun‐Chao;
Zhang, Xiao;
Lv, Ji‐Neng;
Jin, Guang‐Hui;
Xiang, Lue;
Chen, Jie;
Huang, Xiu‐Feng;
Pan, Deng;
Lu, Bin;
Lu, Fan;
Qu, Jia;
Jin, Zi‐Bing

Publication type:

Article

A novel homozygous splice‐site variant of NCAPD2 gene identified in two siblings with primary microcephaly: The second case report.

Published in:

Clinical Genetics, 2019, v. 96, n. 1, p. 98, doi. 10.1111/cge.13559

By:

Lin, Yunting;
Zeng, Chunhua;
Lu, Zhikun;
Lin, Ruizhu;
Liu, Li

Publication type:

Article

Molecular genetic study of acute intermittent porphyria in Russia: HMBS gene mutation spectrum and problem of penetrance.

Published in:

Clinical Genetics, 2019, v. 96, n. 1, p. 91, doi. 10.1111/cge.13558

By:

Goncharova, Maria;
Pshenichnikova, Olesya;
Luchinina, Yulia;
Pustovoit, Yaroslav;
Karpova, Irina;
Surin, Vadim

Publication type:

Article

16p13.11 microdeletion uncovers loss‐of‐function of a MYH11 missense variant in a patient with megacystis‐microcolon‐intestinal‐hypoperistalsis syndrome.

Published in:

Clinical Genetics, 2019, v. 96, n. 1, p. 85, doi. 10.1111/cge.13557

By:

Kloth, Katja;
Renner, Sina;
Burmester, Gunter;
Steinemann, Doris;
Pabst, Brigitte;
Lorenz, Birgit;
Simon, Ronald;
Kolbe, Verena;
Hempel, Maja;
Rosenberger, Georg

Publication type:

Article

ATP1A3 mosaicism in families with alternating hemiplegia of childhood.

Published in:

Clinical Genetics, 2019, v. 96, n. 1, p. 43, doi. 10.1111/cge.13539

By:

Yang, Xiaoling;
Yang, Xiaoxu;
Chen, Jiaoyang;
Li, Shupin;
Zeng, Qi;
Huang, August Y.;
Ye, Adam Y.;
Yu, Zhe;
Wang, Sheng;
Jiang, Yuwu;
Wu, Xiru;
Wu, Qixi;
Wei, Liping;
Zhang, Yuehua

Publication type:

Article

Genome‐wide association study identifies new susceptibility loci for diabetic nephropathy in Korean patients with type 2 diabetes mellitus.

Published in:

Clinical Genetics, 2019, v. 96, n. 1, p. 35, doi. 10.1111/cge.13538

By:

Jeong, Kyung H.;
Kim, Jin S.;
Woo, Jeong‐Taek;
Rhee, Sang Y.;
Lee, Yu H.;
Kim, Yang G.;
Moon, Ju‐Young;
Kim, Su K.;
Kang, Sun W.;
Lee, Sang H.;
Kim, Yeong H.

Publication type:

Article

The choice not to undergo genetic testing for Huntington disease: Results from the PHAROS study.

Published in:

Clinical Genetics, 2019, v. 96, n. 1, p. 28, doi. 10.1111/cge.13529

By:

Anderson, Karen E.;
Eberly, Shirley;
Marder, Karen S.;
Oakes, David;
Kayson, Elise;
Young, Anne;
Shoulson, Ira

Publication type:

Article

Generality of genomic findings on blood pressure traits and its usefulness in precision medicine in diverse populations: A systematic review.

Published in:

Clinical Genetics, 2019, v. 96, n. 1, p. 17, doi. 10.1111/cge.13527

By:

Kolifarhood, Goodarz;
Daneshpour, Maryam S.;
Khayat, Bahareh S.;
Saadati, Hossein M.;
Guity, Kamran;
Khosravi, Nasim;
Akbarzadeh, Mahdi;
Sabour, Siamak

Publication type:

Article

Telomeropathies: Etiology, diagnosis, treatment and follow‐up. Ethical and legal considerations.

Published in:

Clinical Genetics, 2019, v. 96, n. 1, p. 3, doi. 10.1111/cge.13526

By:

Armando, Romina G.;
Mengual Gomez, Diego L.;
Maggio, Julián;
Sanmartin, María C.;
Gomez, Daniel E.

Publication type:

Article

Issue Information ‐ Editorial Board.

Published in:: Clinical Genetics, 2019, v. 96, n. 1, p. 1, doi. 10.1111/cge.13399
Publication type:: Article