Search Results - "Medical Genetics"

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  1. 481
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    BAC-FISH refutes report of an 8p22-8p23.1 inversion or duplication in 8 patients with Kabuki syndrome by Hobart Holly H, Morris Colleen A, Kimberley Kendra W

    Published 2006
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  2. 482
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    Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome) by Shari Javadiyan, Jamie E. Craig, Shiwani Sharma, Karen M. Lower, Theresa Casey, Eric Haan, Emmanuelle Souzeau, Kathryn P. Burdon

    Published 2017
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  3. 483
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    Coarctation of the aorta and mild to moderate developmental delay in a child with a <it>de novo </it>deletion of chromosome 15(q21.1q22.2) by Peters Sarika U, Sanders Merideth E, Sahoo Trilochan, Lalani Seema R, Bejjani Bassem A

    Published 2006
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  4. 484
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    <it>TCF7L2 </it>and therapeutic response to sulfonylureas in patients with type 2 diabetes by Stumvoll Michael, Körner Antje, Hahn Michael, Holstein Andreas, Kovacs Peter

    Published 2011
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  5. 485
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    Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report by Jun Liu, Xu-Yun Hu, Zhi-Peng Zhao, Ruo-Lan Guo, Jun Guo, Wei Li, Chan-Juan Hao, Bao-Ping Xu

    Published 2019
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  6. 486
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    Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes by Birch Rachael, Clayton-Smith Jill, Ramsden Simon C, Buiting Karin

    Published 2010
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  7. 487
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    De novo mutations in SCN1A are associated with classic Rett syndrome: a case report by Mari Wold Henriksen, Kirstine Ravn, Benedicte Paus, Stephen von Tetzchner, Ola H Skjeldal

    Published 2018
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  8. 488
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    Left ventricular hypertrabeculation/noncompaction with epilepsy, other heart defects, minor facial anomalies and new copy number variants by Nagel Bert, Gruber-Sedlmayr Ursula, Uhrig Sabine, Stöllberger Claudia, Klopocki Eva, Finsterer Josef

    Published 2012
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  9. 489
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    A novel mutation in STK11 gene is associated with Peutz-Jeghers Syndrome in Chinese patients by Wang Zhiqing, Chen Yulan, Wu Baoping, Zheng Haoxuan, He Jiman, Jiang Bo

    Published 2011
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  10. 490
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    Novel variant in NSDHL gene associated with CHILD syndrome and syndactyly- a case report by D. Hettiarachchi, Hetalkumar Panchal, P. S. Lai, V. H. W. Dissanayake

    Published 2020
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  11. 491
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    A novel TSC2 c.4511 T > C missense variant associated with tuberous sclerosis complex by Shunzhi He, Na Lv, Hongchu Bao, Xiong Wang, Jing Li

    Published 2020
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  12. 492
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    A novel RUNX2 missense mutation predicted to disrupt DNA binding causes cleidocranial dysplasia in a large Chinese family with hyperplastic nails by Wang Xiaoqin, Jiang Yusheng, Yang Xuemei, Du Jicheng, Xu Xueqin, Xu Qiyu, Tang Shaohua, Speck Nancy, Huang Taosheng

    Published 2007
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  13. 493
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    Reassessing the role of mitochondrial DNA mutations in autism spectrum disorder by Carracedo Ángel, Cuscó Ivón, Mosquera-Miguel Ana, Álvarez-Iglesias Vanesa, Pérez-Jurado Luis, Salas Antonio

    Published 2011
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  14. 494
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    Association of uncoupling protein (Ucp) gene polymorphisms with cardiometabolic diseases by Anna E. Pravednikova, Sergey Y. Shevchenko, Victor V. Kerchev, Manana R. Skhirtladze, Svetlana N. Larina, Zaur M. Kachaev, Alexander D. Egorov, Yulii V. Shidlovskii

    Published 2020
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  15. 495
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    Functional characterization of two enhancers located downstream FOXP2 by Raúl Torres-Ruiz, Antonio Benítez-Burraco, Marta Martínez-Lage, Sandra Rodríguez-Perales, Paloma García-Bellido

    Published 2019
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  16. 496
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    Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families by Abida Akbar, Claire Prince, Chloe Payne, James Fasham, Wasim Ahmad, Emma L. Baple, Andrew H. Crosby, Gaurav V. Harlalka, Asma Gul

    Published 2019
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  17. 497
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    Genetic selection? A study of individual variation in the enzymes of folate metabolism by Relton Caroline L, Skinner Jane, Willis Gavin A, Jennings Barbara A

    Published 2010
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  18. 498
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    Linkage analysis of HLA and candidate genes for celiac disease in a North American family-based study by Farnham James, Feolo Michael, Neuhausen Susan L, Book Linda, Zone John J

    Published 2001
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  19. 499
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    Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region by Antiñolo Guillermo, González-Meneses Antonio, Núñez-Torres Rocío, Fernández Raquel M, Borrego Salud

    Published 2010
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  20. 500
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    A unique homozygous WRAP53 Arg298Trp mutation underlies dyskeratosis congenita in a Chinese Han family by Yingqi Shao, Sizhou Feng, Jinbo Huang, Jiali Huo, Yahong You, Yizhou Zheng

    Published 2018
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