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Correlation between FBN1 mutations and ocular features with ectopia lentis in the setting of Marfan syndrome and related fibrillinopathies.
Published in:
Human Mutation, 2021, v. 42, n. 12, p. 1637, doi. 10.1002/humu.24283
By:
- Chen, Ze‐Xu;
- Chen, Tian‐Hui;
- Zhang, Min;
- Chen, Jia‐Hui;
- Lan, Li‐Na;
- Deng, Michael;
- Zheng, Jia‐Lei;
- Jiang, Yong‐Xiang
Publication type:
Article
A comprehensive molecular study identified 12 complementation groups with 56 novel FANC gene variants in Indian Fanconi anemia subjects.
Published in:
Human Mutation, 2021, v. 42, n. 12, p. 1648, doi. 10.1002/humu.24286
By:
- George, Merin;
- Solanki, Avani;
- Chavan, Niranjan;
- Rajendran, Aruna;
- Raj, Revathi;
- Mohan, Sheila;
- Nemani, Sandeep;
- Kanvinde, Shailesh;
- Munirathnam, Deendayalan;
- Rao, Sudha;
- Radhakrishnan, Nita;
- Lashkari, Harsha Prasada;
- Ghildhiyal, Radha Gulati;
- Manglani, Mamta;
- Shanmukhaiah, Chandrakala;
- Bhat, Sunil;
- Ramesh, Sowmyashree;
- Cherian, Anchu;
- Junagade, Pritesh;
- Vundinti, Babu Rao
Publication type:
Article
A bi‐allelic loss‐of‐function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever.
Published in:
Human Mutation, 2021, v. 42, n. 12, p. 1576, doi. 10.1002/humu.24285
By:
- Ravel, Jean‐Marie;
- Dreumont, Natacha;
- Mosca, Pauline;
- Smith, Desiree E. C.;
- Mendes, Marisa I.;
- Wiedemann, Arnaud;
- Coelho, David;
- Schmitt, Emmanuelle;
- Rivière, Jean‐Baptiste;
- Tran Mau‐Them, Frédéric;
- Thevenon, Julien;
- Kuentz, Paul;
- Polivka, Marc;
- Fuchs, Sabine A.;
- Kok, Gautam;
- Thauvin‐Robinet, Christel;
- Guéant, Jean‐Louis;
- Salomons, Gajja S.;
- Faivre, Laurence;
- Feillet, François
Publication type:
Article
Molecular landscape of DYSF mutations in dysferlinopathy: From a Chinese multicenter analysis to a worldwide perspective.
Published in:
Human Mutation, 2021, v. 42, n. 12, p. 1615, doi. 10.1002/humu.24284
By:
- Zhong, Huahua;
- Yu, Meng;
- Lin, Pengfei;
- Zhao, Zhe;
- Zheng, Xueying;
- Xi, Jianying;
- Zhu, Wenhua;
- Zheng, Yiming;
- Zhang, Wei;
- Lv, He;
- Yan, Chuanzhu;
- Hu, Jing;
- Wang, Zhaoxia;
- Lu, Jiahong;
- Zhao, Chongbo;
- Luo, Sushan;
- Yuan, Yun
Publication type:
Article
Issue Information.
Published in:
Human Mutation, 2021, v. 42, n. 12, p. 1519, doi. 10.1002/humu.24049
Publication type:
Article
Cover, Volume 42, Issue 12.
Published in:
Human Mutation, 2021, v. 42, n. 12, p. i, doi. 10.1002/humu.24295
By:
- Peng, Jiguang;
- Xiang, Jiale;
- Jin, Xiangqian;
- Meng, Junhua;
- Song, Nana;
- Chen, Lisha;
- Abou Tayoun, Ahmad;
- Peng, Zhiyu
Publication type:
Article
Epidemiological aspects of hereditary fructose intolerance: A database study.
Published in:
Human Mutation, 2021, v. 42, n. 12, p. 1548, doi. 10.1002/humu.24282
By:
- Pinheiro, Franciele C.;
- Sperb‐Ludwig, Fernanda;
- Schwartz, Ida V. D.
Publication type:
Article
Validation of low‐coverage whole‐genome sequencing for mitochondrial DNA variants suggests mitochondrial DNA as a genetic cause of preterm birth.
Published in:
Human Mutation, 2021, v. 42, n. 12, p. 1602, doi. 10.1002/humu.24279
By:
- Yang, Zeyu;
- Slone, Jesse;
- Wang, Xinjian;
- Zhan, Jack;
- Huang, Yongbo;
- Namjou, Bahram;
- Kaufman, Kenneth M.;
- Pauciulo, Michael;
- Harley, John B.;
- Muglia, Louis J.;
- Chepelev, Iouri;
- Huang, Taosheng
Publication type:
Article
Actionable genomic variants in 6045 participants from the Qatar Genome Program.
Published in:
Human Mutation, 2021, v. 42, n. 12, p. 1584, doi. 10.1002/humu.24278
By:
- Elfatih, Amal;
- Mifsud, Borbala;
- Syed, Najeeb;
- Badii, Ramin;
- Mbarek, Hamdi;
- Abbaszadeh, Fatemeh;
- Estivill, Xavier;
- Ismail, Said;
- Al‐Muftah, Wadha;
- Badji, Radja;
- Darwish, Dima;
- Fadl, Tasnim;
- Yasin, Heba;
- Ennaifar, Maryem;
- Abdel‐latif, Rania;
- Alkuwari, Fatima;
- Alvi, Muhammad;
- Sarraj, Yasser Al;
- Saad, Chadi;
- Althani, Asmaa
Publication type:
Article
VIP‐HL: Semi‐automated ACMG/AMP variant interpretation platform for genetic hearing loss.
Published in:
Human Mutation, 2021, v. 42, n. 12, p. 1567, doi. 10.1002/humu.24277
By:
- Peng, Jiguang;
- Xiang, Jiale;
- Jin, Xiangqian;
- Meng, Junhua;
- Song, Nana;
- Chen, Lisha;
- Abou Tayoun, Ahmad;
- Peng, Zhiyu
Publication type:
Article
PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease.
Published in:
Human Mutation, 2021, v. 42, n. 12, p. 1521, doi. 10.1002/humu.24275
By:
- Peeters, Manon H. C. A;
- Khan, Mubeen;
- Rooijakkers, Anoek A. M. B;
- Mulders, Timo;
- Haer‐Wigman, Lonneke;
- Boon, Camiel J. F.;
- Klaver, Caroline C. W.;
- van den Born, L. Ingeborgh;
- Hoyng, Carel B.;
- Cremers, Frans P. M.;
- den Hollander, Anneke I.;
- Dhaenens, Claire‐Marie;
- Collin, Rob W. J.
Publication type:
Article
Noncoding sequence variants define a novel regulatory element in the first intron of the N‐acetylglutamate synthase gene.
Published in:
Human Mutation, 2021, v. 42, n. 12, p. 1624, doi. 10.1002/humu.24281
By:
- Häberle, Johannes;
- Moore, Marvin B.;
- Haskins, Nantaporn;
- Rüfenacht, Véronique;
- Rokicki, Dariusz;
- Rubio‐Gozalbo, Estela;
- Tuchman, Mendel;
- Longo, Nicola;
- Yandell, Mark;
- Andrews, Ashley;
- AhMew, Nicholas;
- Caldovic, Ljubica
Publication type:
Article

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