Works matching IS 00099163 AND DT 2019 AND VI 95 AND IP 5

Results: 15

Clinical and genetic characterization of a cohort of Chinese patients with hereditary spastic paraplegia.
Published in:
Clinical Genetics, 2019, v. 95, n. 5, p. 637, doi. 10.1111/cge.13517
By:
- Yan, Yang‐Tian;
- Wei, Qiao;
- Zheng, Yicen;
- Luo, Wen‐Jiao;
- Dong, Hai‐Lin;
- Lu, Cong;
- Zhang, Juan;
- Chen, Mei‐Jiao;
- Bao, Ying‐Xiao;
- Li, Hong‐Fu
Publication type:
Article
Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees.
Published in:
Clinical Genetics, 2019, v. 95, n. 5, p. 634, doi. 10.1111/cge.13515
By:
- Truong, Brittany T.;
- Yarza, Talitha K.L.;
- Bootpetch Roberts, Tori;
- Roberts, Susannah;
- Xu, Jonathan;
- Steritz, Matthew J.;
- Tobias‐Grasso, Celina A.M.;
- Azamian, Mahshid;
- Lalani, Seema R.;
- Mohlke, Karen L.;
- Lee, Nanette R.;
- Cutiongco‐de la Paz, Eva Maria;
- Reyes‐Quintos, Maria Rina T.;
- Santos‐Cortez, Regie Lyn P.;
- Chiong, Charlotte M.
Publication type:
Article
DNAH2 is a novel candidate gene associated with multiple morphological abnormalities of the sperm flagella.
Published in:
Clinical Genetics, 2019, v. 95, n. 5, p. 590, doi. 10.1111/cge.13525
By:
- Li, Yang;
- Sha, Yanwei;
- Wang, Xiong;
- Ding, Lu;
- Liu, Wensheng;
- Ji, Zhiyong;
- Mei, Libin;
- Huang, Xianjing;
- Lin, Shaobin;
- Kong, Shuangbo;
- Lu, Jinhua;
- Qin, Weibing;
- Zhang, Xinzhong;
- Zhuang, Jianmin;
- Tang, Yunge;
- Lu, Zhongxian
Publication type:
Article
Clinical delineation of GTPBP2‐associated neuro‐ectodermal syndrome: Report of two new families and review of the literature.
Published in:
Clinical Genetics, 2019, v. 95, n. 5, p. 601, doi. 10.1111/cge.13523
By:
- Carter, Melissa T.;
- Venkateswaran, Sunita;
- Shapira‐Zaltsberg, Gali;
- Davila, Jorge;
- Humphreys, Peter;
- Kernohan, Kristin D.;
- Boycott, Kym M.
Publication type:
Article
Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome.
Published in:
Clinical Genetics, 2019, v. 95, n. 5, p. 575, doi. 10.1111/cge.13521
By:
- Peters, Sarika U.;
- Fu, Cary;
- Suter, Bernhard;
- Marsh, Eric;
- Benke, Timothy A.;
- Skinner, Steve A.;
- Lieberman, David N.;
- Standridge, Shannon;
- Jones, Mary;
- Beisang, Arthur;
- Feyma, Timothy;
- Heydeman, Peter;
- Ryther, Robin;
- Kaufmann, Walter E.;
- Glaze, Daniel G.;
- Neul, Jeffrey L.;
- Percy, Alan K.
Publication type:
Article
Lessons from exome sequencing in prenatally diagnosed heart defects: A basis for prenatal testing.
Published in:
Clinical Genetics, 2019, v. 95, n. 5, p. 582, doi. 10.1111/cge.13536
By:
- Westphal, Dominik S.;
- Leszinski, Gloria S.;
- Rieger‐Fackeldey, Esther;
- Graf, Elisabeth;
- Weirich, Gregor;
- Meitinger, Thomas;
- Ostermayer, Eva;
- Oberhoffer, Renate;
- Wagner, Matias
Publication type:
Article
Exome sequencing in Crisponi/cold‐induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses.
Published in:
Clinical Genetics, 2019, v. 95, n. 5, p. 607, doi. 10.1111/cge.13532
By:
- Angius, Andrea;
- Uva, Paolo;
- Oppo, Manuela;
- Buers, Insa;
- Persico, Ivana;
- Onano, Stefano;
- Cuccuru, Gianmauro;
- Van Allen, Margot I.;
- Hulait, Gurdip;
- Aubertin, Gudrun;
- Muntoni, Francesco;
- Fry, Andrew E.;
- Annerén, Göran;
- Stattin, Eva‐Lena;
- Palomares‐Bralo, María;
- Santos‐Simarro, Fernando;
- Cucca, Francesco;
- Crisponi, Giangiorgio;
- Rutsch, Frank;
- Crisponi, Laura
Publication type:
Article
A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia.
Published in:
Clinical Genetics, 2019, v. 95, n. 5, p. 631, doi. 10.1111/cge.13513
By:
- Yüksel, Zafer;
- Vogel, Florian;
- Alhashem, Amal M.;
- Alanzi, Talal S.A.;
- Tabarki, Brahim;
- Kampe, Kapil;
- Kandaswamy, Krishna K.;
- Werber, Martin;
- Bertoli‐Avella, Aida M.;
- Beetz, Christian;
- Rolfs, Arndt;
- Bauer, Peter
Publication type:
Article
PKD1L1‐related situs inversus associated with sideroblastic anemia.
Published in:
Clinical Genetics, 2019, v. 95, n. 5, p. 629, doi. 10.1111/cge.13512
By:
- Rodriguez, Shaina;
- Chaturvedi, Rajiv;
- Blanchette, Victor;
- Dell, Sharon;
- Axford, Michelle;
- Cada, Michaela;
- Dror, Yigal
Publication type:
Article
Difficulties and challenges in the development of precision medicine.
Published in:
Clinical Genetics, 2019, v. 95, n. 5, p. 569, doi. 10.1111/cge.13511
By:
- Liu, Xiaoqin;
- Luo, Xin;
- Jiang, Chunyang;
- Zhao, Hui
Publication type:
Article
Clinical and molecular diagnosis of non‐phosphomannomutase 2 N‐linked congenital disorders of glycosylation in Spain.
Published in:
Clinical Genetics, 2019, v. 95, n. 5, p. 615, doi. 10.1111/cge.13508
By:
- Medrano, Celia;
- Vega, Ana;
- Navarrete, Rosa;
- Ecay, M. Jesús;
- Calvo, Rocío;
- Pascual, Samuel Ignacio;
- Ruiz‐Pons, Mónica;
- Toledo, Laura;
- García‐Jiménez, Inmaculada;
- Arroyo, Ignacio;
- Campo, Andrea;
- Couce, M. Luz;
- Domingo‐Jiménez, M. Rosario;
- García‐Silva, M. Teresa;
- González‐Gutiérrez‐Solana, Luis;
- Hierro, Loreto;
- Martín‐Hernández, Elena;
- Martínez‐Pardo, Mercedes;
- Roldán, Susana;
- Tomás, Miguel
Publication type:
Article
Long non‐coding RNAs differential expression in breast cancer subtypes: What do we know?
Published in:
Clinical Genetics, 2019, v. 95, n. 5, p. 558, doi. 10.1111/cge.13502
By:
- Mathias, Carolina;
- Zambalde, Erika P.;
- Rask, Philip;
- Gradia, Daniela F.;
- de Oliveira, Jaqueline C.
Publication type:
Article
The genetic pathogenesis, diagnosis and therapeutic insight of rheumatoid arthritis.
Published in:
Clinical Genetics, 2019, v. 95, n. 5, p. 547, doi. 10.1111/cge.13498
By:
- Zamanpoor, Mansour
Publication type:
Article
Hypermobile Ehlers‐Danlos‐like syndrome in Fabry disease.
Published in:
Clinical Genetics, 2019, v. 95, n. 5, p. 627, doi. 10.1111/cge.13497
By:
- Barbey, Frédéric;
- Lidove, Olivier;
- Dormond, Olivier
Publication type:
Article
Issue Information ‐ Editorial Board.
Published in:
Clinical Genetics, 2019, v. 95, n. 5, p. 545, doi. 10.1111/cge.13397
Publication type:
Article