Works matching IS 00099163 AND DT 2024 AND VI 106 AND IP 6

Results: 16

Multiple congenital anomalies in two fetuses with glutathione‐synthetase deficit (GSS).
Published in:
Clinical Genetics, 2024, v. 106, n. 6, p. 776, doi. 10.1111/cge.14613
By:
- Jury, Jeanne;
- Benoist, Jean‐François;
- Joubert, Madeleine;
- Quelin, Chloé;
- Besnard, Thomas;
- Conrad, Solène;
- Le Vaillant, Claudine;
- Bézieau, Stéphane;
- Isidor, Bertrand;
- Attié‐Bitach, Tania;
- Cogné, Benjamin;
- Vincent, Marie
Publication type:
Article
Second Case of Gonadal Mosaicism and a Novel Nonsense NR2F1 Gene Variant as the Cause of Bosch–Boonstra–Schaaf Optic Atrophy Syndrome.
Published in:
Clinical Genetics, 2024, v. 106, n. 6, p. 786, doi. 10.1111/cge.14623
By:
- Hrvatin, Nenad;
- Pereza, Nina;
- Čaljkušić‐Mance, Tea;
- Vučerić, Tamara Mišljenović;
- Ostojić, Saša;
- Hodžić, Alenka;
- Maver, Aleš;
- Peterlin, Borut
Publication type:
Article
Research progress of the relationship between phosphoprotein phosphatases (PPPs) and neurodevelopmental disorders.
Published in:
Clinical Genetics, 2024, v. 106, n. 6, p. 679, doi. 10.1111/cge.14617
By:
- Ji, Wenya;
- Zheng, Bixia;
- Zhang, Aihua
Publication type:
Article
Genetics of anomalies of the kidney and urinary tract with congenital heart disease: A review.
Published in:
Clinical Genetics, 2024, v. 106, n. 6, p. 667, doi. 10.1111/cge.14615
By:
- Barakat, Amin J.;
- Butler, Merlin G.
Publication type:
Article
Novel PLEC variants associated with infantile cholestasis.
Published in:
Clinical Genetics, 2024, v. 106, n. 6, p. 769, doi. 10.1111/cge.14611
By:
- Kor‐anantakul, Phawin;
- Chen, Huey‐Ling;
- Chen, Ya‐Hui;
- Ittiwut, Chupong;
- Ittiwut, Rungnapa;
- Chaijitraruch, Nataruks;
- Suphapeetiporn, Kanya;
- Chongsrisawat, Voranush
Publication type:
Article
Dissecting CASK: Novel splice site variant associated with male MICPCH phenotype.
Published in:
Clinical Genetics, 2024, v. 106, n. 6, p. 764, doi. 10.1111/cge.14610
By:
- Silveira, Karina C.;
- Ambrose, Anastasia;
- Athey, Taryn;
- Taylor, Sherryl;
- Mercimek‐Andrews, Saadet;
- Kannu, Peter
Publication type:
Article
Expanding the phenotypes of ABL1 deficiency syndromes: When mutations in different isoforms Lead to different diseases.
Published in:
Clinical Genetics, 2024, v. 106, n. 6, p. 782, doi. 10.1111/cge.14609
By:
- Chouery, Eliane;
- Mehawej, Cybel;
- Mansour, Aline;
- Corbani, Sandra;
- Korban, Rima;
- Zalloum, Richard;
- Megarbane, Andre
Publication type:
Article
SCYL2‐related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita‐4 and beyond?
Published in:
Clinical Genetics, 2024, v. 106, n. 6, p. 757, doi. 10.1111/cge.14608
By:
- Malbos, Marlène;
- Vera, Gabriella;
- Sheth, Harsh;
- Schnur, Rhonda E.;
- Juven, Aurélien;
- Brehin, Anne‐Claire;
- Sheth, Jayesh;
- Gandhi, Ajit;
- Shapiro, Faye L.;
- Bruel, Ange‐Line;
- Marguet, Florent;
- Begtrup, Amber;
- Monaghan, Kristin G.;
- Safraou, Hana;
- Brasseur‐Daudruy, Marie;
- Mau‐Them, Frédéric Tran;
- Duffourd, Yannis;
- Faivre, Laurence;
- Thauvin‐Robinet, Christel;
- Benke, Paul J.
Publication type:
Article
The clinical and genetic spectrum of mitochondrial diseases in China: A multicenter retrospective cross‐sectional study.
Published in:
Clinical Genetics, 2024, v. 106, n. 6, p. 733, doi. 10.1111/cge.14605
By:
- Zhao, Yang;
- Zhao, Xutong;
- Ji, Kunqian;
- Wang, Junling;
- Zhao, Yuying;
- Lin, Jie;
- Gang, Qiang;
- Yu, Meng;
- Yuan, Yun;
- Jiang, Haishan;
- Sun, Chong;
- Fang, Fang;
- Yan, Chuanzhu;
- Wang, Zhaoxia
Publication type:
Article
Exploring the role of non‐canonical splice site variants in aberrant splicing associated with reproductive genetic disorders.
Published in:
Clinical Genetics, 2024, v. 106, n. 6, p. 750, doi. 10.1111/cge.14604
By:
- Zhou, Ling;
- Yang, Min;
- Mei, Mei;
- Mai, Zhuoyao;
- Li, Xiaojuan;
- Deng, Kewen;
- Chen, Shiyi;
- Lin, Siyuan;
- Li, Yinshi;
- Jiang, Weilun;
- Chen, Hui;
- He, Zuyong;
- Yuan, Ping
Publication type:
Article
Clinicogenetic characterization of cerebrotendinous xanthomatosis in Brazil.
Published in:
Clinical Genetics, 2024, v. 106, n. 6, p. 721, doi. 10.1111/cge.14602
By:
- Fussiger, Helena;
- Lima, Pedro Lucas G. S. B.;
- Souza, Paulo V. S.;
- Freua, Fernando;
- Husny, Antonette S. E.;
- Leão, Emília K. E. A.;
- Braga‐Neto, Pedro;
- Kok, Fernando;
- Lynch, David S.;
- Saute, Jonas A. M.;
- Nóbrega, Paulo R.
Publication type:
Article
Non‐immune hydrops fetalis is associated with bi‐allelic pathogenic variants in the MYB Binding Protein 1a (MYBBP1A) gene.
Published in:
Clinical Genetics, 2024, v. 106, n. 6, p. 713, doi. 10.1111/cge.14601
By:
- Tenorio‐Castano, Jair;
- Mansilla Aparicio, Elena;
- García Santiago, Fe Amalia;
- Klotz, Cherise M.;
- Regojo, Rita María;
- Anguita, Estefanía;
- Ryan, Erin;
- Juusola, Jane;
- Herrero, Beatriz;
- Arias, Pedro;
- Parra, Alejandro;
- Pascual, Patricia;
- Gallego, Natalia;
- Cazalla, Mario;
- Rodriguez‐González, Roberto;
- Antolín, Eugenia;
- Nevado, Julián;
- Ruiz‐Perez, Víctor L.;
- Lapunzina, Pablo
Publication type:
Article
Genetic landscape of hearing loss in prelingual deaf patients of eastern Iran: Insights from exome sequencing analysis.
Published in:
Clinical Genetics, 2024, v. 106, n. 6, p. 693, doi. 10.1111/cge.14599
By:
- Alerasool, Masoome;
- Eslahi, Atieh;
- Vona, Barbara;
- Kahaei, Mir Salar;
- Mojaver, Nasrin Kaseb;
- Rajati, Mohsen;
- Pasdar, Alireza;
- Ghasemi, Mohammad Mehdi;
- Saburi, Ehsan;
- Ardehaie, Reza Mousavi;
- Aval, Majid Hadadi;
- Tale, Mohammad Reza;
- Nourizadeh, Navid;
- Afzalzadeh, Mohammad Reza;
- Niknezhad, Hamid Tayarani;
- Mojarrad, Majid
Publication type:
Article
A de novo novel variant in the MT‐TD gene is associated with prominent extra‐neurologic manifestations.
Published in:
Clinical Genetics, 2024, v. 106, n. 6, p. 745, doi. 10.1111/cge.14594
By:
- Sun, Liuyu;
- Ren, Yali;
- Ma, Yinan;
- Zhu, Ying;
- Wu, Ye;
- Wang, Suxia;
- Nie, Lin;
- Xiao, Huijie;
- Jiang, Yuwu;
- Wang, Fang
Publication type:
Article
Issue Information.
Published in:
Clinical Genetics, 2024, v. 106, n. 6, p. 665, doi. 10.1111/cge.14377
Publication type:
Article
Epilepsy due to potential loss of ATP6V1B2 function with mechanistic insight by a Drosophila Vha55 model.
Published in:
Clinical Genetics, 2024, v. 106, n. 6, p. 702, doi. 10.1111/cge.14600
By:
- Sheng, Wenchao;
- Wang, Ping;
- Cai, Yingzi;
- Zhai, Chaojun;
- Wang, Hong;
- Zhou, Feiyu;
- Liu, Xiaoyu;
- Wang, Leyi;
- Li, Dong;
- Shu, Jianbo;
- Cai, Chunquan
Publication type:
Article