Works matching IS 00099163 AND DT 2023 AND VI 103 AND IP 3

Results: 18

A comprehensive functional analysis on the pathogenesis of novel TSPAN12 and NDP variants in familial exudative vitreoretinopathy.
Published in:
Clinical Genetics, 2023, v. 103, n. 3, p. 320, doi. 10.1111/cge.14273
By:
- Zhao, Rulian;
- Dai, Erkuan;
- Wang, Shiyuan;
- Zhang, Xiang;
- He, Yunqi;
- Peng, Li;
- Zhao, Peiquan;
- Yang, Zhenglin;
- Yang, Mu;
- Li, Shujin
Publication type:
Article
A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature.
Published in:
Clinical Genetics, 2023, v. 103, n. 3, p. 377, doi. 10.1111/cge.14270
By:
- Couloigner, Loïc;
- Planes, Marc;
- Ka, Chandran;
- Audebert‐Bellanger, Séverine;
- Redon, Sylvia;
- Benech, Caroline;
- Rouault, Karen;
- Küry, Sebastien;
- Peudenier, Sylviane;
- Autret, Sandrine;
- Gourlaouen, Isabelle;
- Bonneau, Dominique;
- Odent, Sylvie;
- Bézieau, Stéphane;
- Gilbert‐Dussardier, Brigitte;
- Toutain, Annick;
- Boland, Anne;
- Deleuze, Jean‐François;
- Le Marechal, Cédric;
- Le Gac, Gérald
Publication type:
Article
Novel de novo ZNF148 truncating variant causing autism spectrum disorder, attention deficit hyperactivity disorder, and intellectual disability.
Published in:
Clinical Genetics, 2023, v. 103, n. 3, p. 364, doi. 10.1111/cge.14272
By:
- Miao, Chunyue;
- Du, Lin;
- Zhang, Yu;
- Jia, Feiyong;
- Shan, Ling
Publication type:
Article
Aminoacylation‐defective bi‐allelic mutations in human EPRS1 associated with psychomotor developmental delay, epilepsy, and deafness.
Published in:
Clinical Genetics, 2023, v. 103, n. 3, p. 358, doi. 10.1111/cge.14269
By:
- Jin, Danni;
- Wek, Sheree A.;
- Cordova, Ricardo A.;
- Wek, Ronald C.;
- Lacombe, Didier;
- Michaud, Vincent;
- Musier‐Forsyth, Karin
Publication type:
Article
Identification of nonfunctional SPATA20 causing acephalic spermatozoa syndrome in humans.
Published in:
Clinical Genetics, 2023, v. 103, n. 3, p. 310, doi. 10.1111/cge.14268
By:
- Wang, Xiang;
- Jiang, Chuan;
- Dai, Siyu;
- Shen, Gan;
- Yang, Yihong;
- Shen, Ying
Publication type:
Article
Genetic screening in patients with ovarian dysfunction.
Published in:
Clinical Genetics, 2023, v. 103, n. 3, p. 352, doi. 10.1111/cge.14267
By:
- Zeng, Yang;
- Li, Lin;
- Li, Qingchun;
- Hu, Jijun;
- Zhang, Nana;
- Wu, Ling;
- Yan, Zheng;
- Qu, Ronggui;
- Dong, Jie;
- Liu, Ruyi;
- Choy, Kwong Wai;
- Wang, Lei;
- Sang, Qing;
- Guan, Yichun;
- Chen, Biaobang
Publication type:
Article
New insights in efficacy of different enzyme replacement therapy dosages in Fabry disease: Switch studies data following agalsidase beta shortage.
Published in:
Clinical Genetics, 2023, v. 103, n. 3, p. 371, doi. 10.1111/cge.14266
By:
- Riccio, Eleonora;
- Pisani, Antonio
Publication type:
Article
Loss‐of‐function mutations in CST6 cause dry skin, desquamation and abnormal keratosis without hypotrichosis.
Published in:
Clinical Genetics, 2023, v. 103, n. 3, p. 301, doi. 10.1111/cge.14265
By:
- Wang, Xuan;
- Liu, Jun;
- Chen, Junyi;
- Xu, Xueyan;
- Zhong, Yadan;
- Xu, Yingping;
- Lu, Ping;
- Zhou, Jiajian;
- Lin, Zhimiao;
- Yang, Bin;
- Yang, Chao
Publication type:
Article
Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.
Published in:
Clinical Genetics, 2023, v. 103, n. 3, p. 346, doi. 10.1111/cge.14264
By:
- Becker, Aurélie;
- Felici, Charlotte;
- Lambert, Laëtitia;
- de Saint Martin, Anne;
- Abi‐Warde, Marie‐Thérèse;
- Schaefer, Elise;
- Zix, Christian;
- Zamani, Mina;
- Sadeghian, Saeid;
- Zeighami, Jawaher;
- Seifi, Tahereh;
- Azizimalamiri, Reza;
- Shariati, Gholamreza;
- Galehdari, Hamid;
- Selig, Mareike;
- Ding, Can;
- Duerinckx, Sarah;
- Pirson, Isabelle;
- Abramowicz, Marc;
- Clément, Guillemette
Publication type:
Article
A bi‐allelic missense change c.638A > G in matrix metalloproteinase 15 in a patient with progressive familial intrahepatic cholestasis without cardiac anomalies.
Published in:
Clinical Genetics, 2023, v. 103, n. 3, p. 369, doi. 10.1111/cge.14263
By:
- Nampoothiri, Sheela;
- Dsouza, Jeanne Maria;
- Yesodharan, Dhanya;
- Girisha, Katta M.;
- Eapen, Malini;
- Sivasankaran Nair, Sajitha;
- Pillai, Bhanu Vikraman;
- Radhakrishnan, Periyasamy
Publication type:
Article
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.
Published in:
Clinical Genetics, 2023, v. 103, n. 3, p. 288, doi. 10.1111/cge.14262
By:
- Hartley, Taila;
- Soubry, Élisabeth;
- Acker, Meryl;
- Osmond, Matthew;
- Couse, Madeline;
- Gillespie, Meredith K.;
- Ito, Yoko;
- Marshall, Aren E.;
- Lemire, Gabrielle;
- Huang, Lijia;
- Chisholm, Caitlin;
- Eaton, Alison J.;
- Price, E. Magda;
- Dowling, James J.;
- Ramani, Arun K.;
- Mendoza‐Londono, Roberto;
- Costain, Gregory;
- Axford, Michelle M.;
- Szuto, Anna;
- McNiven, Vanda
Publication type:
Article
FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determination.
Published in:
Clinical Genetics, 2023, v. 103, n. 3, p. 277, doi. 10.1111/cge.14261
By:
- Croft, Brittany;
- Bird, Anthony D.;
- Ono, Makoto;
- Eggers, Stefanie;
- Bagheri‐Fam, Stefan;
- Ryan, Janelle M.;
- Reyes, Alejandra P.;
- van den Bergen, Jocelyn;
- Baxendale, Anne;
- Thompson, Elizabeth M.;
- Kueh, Andrew J.;
- Stanton, Peter;
- Thomas, Tim;
- Sinclair, Andrew H.;
- Harley, Vincent R.
Publication type:
Article
Dynamic interplay of microRNA in diseases and therapeutic.
Published in:
Clinical Genetics, 2023, v. 103, n. 3, p. 268, doi. 10.1111/cge.14256
By:
- Kargutkar, Neha;
- Hariharan, Priya;
- Nadkarni, Anita
Publication type:
Article
A novel variant in AFF3 underlying isolated syndactyly.
Published in:
Clinical Genetics, 2023, v. 103, n. 3, p. 341, doi. 10.1111/cge.14254
By:
- Khan, Hammal;
- Koh, Glenn;
- Chong, Angie En Qi;
- Zahid, Muhammad;
- Hussain, Shabir;
- Ali, Hamid;
- Ahmad, Wasim;
- Xue, Shifeng
Publication type:
Article
Management of copy number variants associated with incomplete penetrance and variable expressivity—Results of a French survey.
Published in:
Clinical Genetics, 2023, v. 103, n. 3, p. 335, doi. 10.1111/cge.14252
By:
- Lejamtel, Floriane;
- Oheix, Cécile;
- Morales, Elisa;
- Martinovic, Jelena;
- Labrune, Philippe;
- Petit, François Mickaël;
- Receveur, Aline;
- Achour‐Frydman, Nelly;
- Benachi, Alexandra;
- Puisney‐Dakhli, Chloé;
- Vivanti, Alexandre Joseph
Publication type:
Article
Biallelic variants in CEP164 cause a motile ciliopathy‐like syndrome.
Published in:
Clinical Genetics, 2023, v. 103, n. 3, p. 330, doi. 10.1111/cge.14251
By:
- Devlin, Laura A.;
- Coles, Janice;
- Jackson, Claire L.;
- Barroso‐Gil, Miguel;
- Green, Ben;
- Walker, Woolf T.;
- Thomas, N. Simon;
- Thompson, James;
- Rock, Simon A.;
- Neatu, Ruxandra;
- Powell, Laura;
- Molinari, Elisa;
- Wilson, Ian J.;
- Cordell, Heather J.;
- Olinger, Eric;
- Miles, Colin G.;
- Sayer, John A.;
- Wheway, Gabrielle;
- Lucas, Jane S.
Publication type:
Article
Vascular aneurysms in Ehlers‐Danlos syndrome subtypes: A systematic review.
Published in:
Clinical Genetics, 2023, v. 103, n. 3, p. 261, doi. 10.1111/cge.14245
By:
- Shabani, Mahsima;
- Abdollahi, Ashkan;
- Brar, Bobby K.;
- MacCarrick, Gretchen L.;
- Ambale Venkatesh, Bharath;
- Lima, Joao A. C.;
- Bodurtha, Joann N.
Publication type:
Article
Issue Information.
Published in:
Clinical Genetics, 2023, v. 103, n. 3, p. 259, doi. 10.1111/cge.14153
Publication type:
Article