Works matching IS 00099163 AND DT 2020 AND VI 97 AND IP 1

Results: 20

Growth factor and receptor malfunctions associated with human genetic deafness.

Published in:

Clinical Genetics, 2020, v. 97, n. 1, p. 138, doi. 10.1111/cge.13641

By:

Naz, Sadaf;
Friedman, Thomas B.

Publication type:

Article

Causative and common PHOX2B variants define a broad phenotypic spectrum.

Published in:

Clinical Genetics, 2020, v. 97, n. 1, p. 103, doi. 10.1111/cge.13633

By:

Bachetti, Tiziana;
Ceccherini, Isabella

Publication type:

Article

Front Cover.

Published in:

Clinical Genetics, 2020, v. 97, n. 1, p. i, doi. 10.1111/cge.13684

By:

Avagliano, Laura;
Parenti, Ilaria;
Grazioli, Paolo;
Di Fede, Elisabetta;
Parodi, Chiara;
Mariani, Milena;
Kaiser, Frank J.;
Selicorni, Angelo;
Gervasini, Cristina;
Massa, Valentina

Publication type:

Article

Chromatinopathies: A focus on Cornelia de Lange syndrome.

Published in:

Clinical Genetics, 2020, v. 97, n. 1, p. 3, doi. 10.1111/cge.13674

By:

Avagliano, Laura;
Parenti, Ilaria;
Grazioli, Paolo;
Di Fede, Elisabetta;
Parodi, Chiara;
Mariani, Milena;
Kaiser, Frank J.;
Selicorni, Angelo;
Gervasini, Cristina;
Massa, Valentina

Publication type:

Article

Crisponi/cold‐induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts.

Published in:

Clinical Genetics, 2020, v. 97, n. 1, p. 209, doi. 10.1111/cge.13639

By:

Buers, Insa;
Persico, Ivana;
Schöning, Lara;
Nitschke, Yvonne;
Di Rocco, Maja;
Loi, Angela;
Sahi, Puneet Kaur;
Utine, Gulen Eda;
Bayraktar‐Tanyeri, Bilge;
Zampino, Giuseppe;
Crisponi, Giangiorgio;
Rutsch, Frank;
Crisponi, Laura

Publication type:

Article

Multiple roles and regulatory mechanisms of the transcription factor GATA6 in human cancers.

Published in:

Clinical Genetics, 2020, v. 97, n. 1, p. 64, doi. 10.1111/cge.13630

By:

Sun, Zhaoqing;
Yan, Bo

Publication type:

Article

Application of CRISPR/Cas9 gene editing technique in the study of cancer treatment.

Published in:

Clinical Genetics, 2020, v. 97, n. 1, p. 73, doi. 10.1111/cge.13589

By:

Jiang, Chunyang;
Meng, Lingxiang;
Yang, Bingjun;
Luo, Xin

Publication type:

Article

Molecular defects in thyroid dysgenesis.

Published in:

Clinical Genetics, 2020, v. 97, n. 1, p. 222, doi. 10.1111/cge.13627

By:

Mio, Catia;
Grani, Giorgio;
Durante, Cosimo;
Damante, Giuseppe

Publication type:

Article

Urogenital and pelvic complications in the Ehlers‐Danlos syndromes and associated hypermobility spectrum disorders: A scoping review.

Published in:

Clinical Genetics, 2020, v. 97, n. 1, p. 168, doi. 10.1111/cge.13624

By:

Gilliam, Elizabeth;
Hoffman, Jodi D.;
Yeh, Gloria

Publication type:

Article

What is new about the genetic background of Hirschsprung disease?

Published in:

Clinical Genetics, 2020, v. 97, n. 1, p. 114, doi. 10.1111/cge.13615

By:

Luzón‐Toro, Berta;
Villalba‐Benito, Leticia;
Torroglosa, Ana;
Fernández, Raquel M.;
Antiñolo, Guillermo;
Borrego, Salud

Publication type:

Article

Advances in the gene therapy of monogenic blood cell diseases.

Published in:

Clinical Genetics, 2020, v. 97, n. 1, p. 89, doi. 10.1111/cge.13593

By:

Bueren, Juan A.;
Quintana‐Bustamante, Oscar;
Almarza, Elena;
Navarro, Susana;
Río, Paula;
Segovia, José C.;
Guenechea, Guillermo

Publication type:

Article

Prognostic and predictive role of DNA mismatch repair status in stage II‐III colorectal cancer: A systematic review and meta‐analysis.

Published in:

Clinical Genetics, 2020, v. 97, n. 1, p. 25, doi. 10.1111/cge.13628

By:

Deng, Zhujun;
Qin, Yun;
Wang, Jing;
Wang, Gang;
Lang, Xiaoqiang;
Jiang, Juan;
Xie, Kang;
Zhang, Wengeng;
Xu, Heng;
Shu, Yang;
Zhang, Yan

Publication type:

Article

A review of neurocognitive functioning of children with sex chromosome trisomies: Identifying targets for early intervention.

Published in:

Clinical Genetics, 2020, v. 97, n. 1, p. 156, doi. 10.1111/cge.13586

By:

Urbanus, Evelien;
Rijn, Sophie;
Swaab, Hanna

Publication type:

Article

Issue Information – Editorial Board.

Published in:: Clinical Genetics, 2020, v. 97, n. 1, p. 1, doi. 10.1111/cge.13567
Publication type:: Article

Epithelial ovarian cancer risk: A review of the current genetic landscape.

Published in:

Clinical Genetics, 2020, v. 97, n. 1, p. 54, doi. 10.1111/cge.13566

By:

Flaum, Nicola;
Crosbie, Emma J.;
Edmondson, Richard J.;
Smith, Miriam J.;
Evans, Dafydd G.

Publication type:

Article

Brugada syndrome with SCN5A mutations exhibits more pronounced electrophysiological defects and more severe prognosis: A meta‐analysis.

Published in:

Clinical Genetics, 2020, v. 97, n. 1, p. 198, doi. 10.1111/cge.13552

By:

Chen, Chen;
Tan, Zhaochong;
Zhu, Wengen;
Fu, Linghua;
Kong, Qiling;
Xiong, Qinmei;
Yu, Jianhua;
Hong, Kui

Publication type:

Article

Clinical implications of the oncometabolite succinate in SDHx‐mutation carriers.

Published in:

Clinical Genetics, 2020, v. 97, n. 1, p. 39, doi. 10.1111/cge.13553

By:

Eijkelenkamp, Karin;
Osinga, Thamara E.;
Links, Thera P.;
Horst‐Schrivers, Anouk N.A.

Publication type:

Article

Heterogeneity and overlaps in nucleotide excision repair disorders.

Published in:

Clinical Genetics, 2020, v. 97, n. 1, p. 12, doi. 10.1111/cge.13545

By:

Ferri, Debora;
Orioli, Donata;
Botta, Elena

Publication type:

Article

Current knowledge of medical complications in adults with achondroplasia: A scoping review.

Published in:

Clinical Genetics, 2020, v. 97, n. 1, p. 179, doi. 10.1111/cge.13542

By:

Fredwall, Svein O.;
Maanum, Grethe;
Johansen, Heidi;
Snekkevik, Hildegun;
Savarirayan, Ravi;
Lidal, Ingeborg B.

Publication type:

Article

Phenotypic spectrum of NRXN1 mono‐ and bi‐allelic deficiency: A systematic review.

Published in:

Clinical Genetics, 2020, v. 97, n. 1, p. 125, doi. 10.1111/cge.13537

By:

Castronovo, Paola;
Baccarin, Marco;
Ricciardello, Arianna;
Picinelli, Chiara;
Tomaiuolo, Pasquale;
Cucinotta, Francesca;
Frittoli, Myriam;
Lintas, Carla;
Sacco, Roberto;
Persico, Antonio M.

Publication type:

Article