Search Results - "Medical genetics"

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  1. 301
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    The TECTA mutation R1890C is identified as one of the causes of genetic hearing loss: a case report by Gi-Sung Nam, John Hoon Rim, Jae Young Choi, Heon Yung Gee, Jong Rak Choi, Seung-Tae Lee, Jinsei Jung

    Published 2019
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  2. 302
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    Pharmacological Profile of Viltolarsen for the Treatment of Duchenne Muscular Dystrophy: A Japanese Experience by Roshmi RR, Yokota T

    Published 2021
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  3. 303
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    Human Genetic Variation: A Flipped Classroom Exercise in Cultural Competency by Shoumita Dasgupta, Katherine Tuttle

    Published 2013
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  4. 304
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    Mutations in epidermal growth factor receptor and K-ras in Chinese patients with colorectal cancer by Xueke Zhou, Yachao Lu, Guanshan Zhu, Jun Cao, Yunxia Zuo, Jin Li

    Published 2010
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  5. 305
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    Revisión bibliográfica y extractos de revistas by Federación Colombiana de Obstetricia y Ginecología

    Published 1965
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  6. 306
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    Correction: Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patient... by Chassaing Augustin, Avan Paul, Germain Dominique P, Bonfils Pierre

    Published 2004
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  7. 307
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    Limb girdle muscular dystrophy 23 caused by compound heterozygous mutations of LAMA2 gene by Yuqing Xu, Yuqing Xu, Linyan Zhu, Yeqing Qian, Yeqing Qian, Minyue Dong, Minyue Dong

    Published 2023
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  8. 308
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    Validation of an ELISA-type immune-enzymatic test to quantify levels of diphtheria antitoxin in human serum by Cira Virgen Rodríguez Pelier, Yaíma Zúñiga Rosales, Bárbara Torres Rives, Minerva Matarán Valdéz

    Published 2018
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  9. 309
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    Reporting a rare form of myopathy, myopathy with extrapyramidal signs, in an Iranian family using next generation sequencing: a case report by Marzieh Mojbafan, Somayeh Takrim Nojehdeh, Faezeh Rahiminejad, Yalda Nilipour, Seyed Hasan Tonekaboni, Sirous Zeinali

    Published 2020
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  10. 310
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    PedHunter 2.0 and its usage to characterize the founder structure of the Old Order Amish of Lancaster County by Agarwala Richa, O'Connell Jeffrey R, Pollin Toni I, Lee Woei-Jyh, Schäffer Alejandro A

    Published 2010
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  11. 311
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    Tests for Suspected Inborn Errors of Metabolism by J Gordon Millichap

    Published 1995
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  12. 312
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    Hereditary Susceptibility to Fetal Valproate Syndrome by J Gordon Millichap

    Published 2002
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  13. 313
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    Wiedemann Syndrome by J Gordon Millichap

    Published 1994
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  14. 314
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    Early Development in Duchenne Muscular Dystrophy by J Gordon Millichap

    Published 1990
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  15. 315
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    A heterozygous duplication variant of the HOXD13 gene caused synpolydactyly type 1 with variable expressivity in a Chinese family by Tahir Zaib, Wei Ji, Komal Saleem, Guangchen Nie, Chao Li, Lin Cao, Baijun Xu, Kexian Dong, Hanfei Yu, Xuguang Hao, Yan Xue, Shuhan Si, Xueyuan Jia, Jie Wu, Xuelong Zhang, Rongwei Guan, Guohua Ji, Jing Bai, Feng Chen, Yong Liu, Wenjing Sun, Songbin Fu

    Published 2019
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  16. 316
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    Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report by Andrey V. Marakhonov, Irina A. Mishina, Vitaly V. Kadyshev, Svetlana A. Repina, Maria F. Shurygina, Olga A. Shchagina, Natalya N. Vasserman, Tatyana A. Vasilyeva, Sergey I. Kutsev, Rena A. Zinchenko

    Published 2020
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  17. 317
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    An Overview of Investigational and Experimental Drug Treatment Strategies for Marfan Syndrome by Deleeuw V, De Clercq A, De Backer J, Sips P

    Published 2021
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  18. 318
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    Efficacy of denosumab therapy for neurofibromatosis type I with osteoporosis and history of fractures: a case report by Uehara M, Nakamura Y, Takahashi J, Kamimura M, Isobe F, Yamaguchi T, Kosho T, Uchiyama S, Suzuki T, Kato H

    Published 2018
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  19. 319
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    Mucopolysaccharidosis IIIB and mild skeletal anomalies: coexistence of NAGLU and CYP26B1 missense variations in the same patient in a Chinese family by Jinliang Li, Han Xie, Yuwu Jiang

    Published 2018
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  20. 320
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    Efficacy of denosumab therapy for a 21-year-old woman with Prader-Willi syndrome, osteoporosis and history of fractures: a case report by Uehara M, Nakamura Y, Takahashi J, Suzuki T, Iijima M, Arakawa Y, Ida K, Kosho T, Kato H

    Published 2019
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