Search Results - "gene mapping"

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  1. 21
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    Autopsy of a child with Spinal muscular atrophy Type I (Werdnig‑Hoffmann disease) by Manoj Gopal Madakshira, Sonal Singla, Kirti Gupta, Sayeeda Zahan, Pradip Paria, Jitendra Kumar Sahu

    Published 2021
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  2. 22
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    Inhibition of Autophagy Maintains ESC Pluripotency and Inhibits Primordial Germ Cell Formation in Chickens by Ying Ding, Juanjuan Zhao, Xianshuai Xu, Qisheng Zuo, Yani Zhang, Kai Jin, Wei Han, Bichun Li

    Published 2023
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  3. 23
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    Two Japanese Cases of Birt-Hogg-Dubé Syndrome with Pulmonary Cysts, Fibrofolliculomas, and Renal Cell Carcinomas by Yukako Murakami, Mari Wataya-Kaneda, Mari Tanaka, Aya Takahashi, Akira Tsujimura, Koji Inoue, Norio Nonomura, Ichiro Katayama

    Published 2014
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  4. 24
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    Effects of programmed cell death induction method on somatic cell development by Sang-Hwan Kim

    Published 2021
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  5. 25
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    Familial Cleidocranial Dysplasia in a Neonate: A Case Report by Kalyan Konda, Devendar Katkuri, Kasi Viswanath Reddy, Joshua Rajan X, Leslie Edward Lewis

    Published 2018
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  6. 26
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    Case of a Male Newborn with Incontinentia Pigmenti Initially Misdiagnosed as a Recurrent Skin Infection by Sang Ho Park, Kyung-Hwa Nam, Yo Han Ho

    Published 2020
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  7. 27
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    Mitochondrial dysfunction in down syndrome: molecular mechanisms and therapeutic targets by Antonella Izzo, Nunzia Mollo, Maria Nitti, Simona Paladino, Gaetano Calì, Rita Genesio, Ferdinando Bonfiglio, Rita Cicatiello, Maria Barbato, Viviana Sarnataro, Anna Conti, Lucio Nitsch

    Published 2018
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  8. 28
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    ATHLETIC PERFORMANCE ENHANCING ACE, ACTN3, AMPD1 GENETIC MARKERS, FITNESS CHARACTERISTICS, C-REACTIVE PROTEIN AND URIC ACID OF CRICKET, NETBALL, RUGBY AND SOCCER PLAYERS: A REVIEW by Sam Chenjerai Mugandani

    Published 2019
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  9. 29
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    Co-expression in tissue-specific gene networks links genes in cancer-susceptibility loci to known somatic driver genes by Carlos G. Urzúa-Traslaviña, Tijs van Lieshout, Floranne Boulogne, Kevin Domanegg, Mahmoud Zidan, Olivier B. Bakker, Annique Claringbould, Jeroen de Ridder, Wilbert Zwart, Harm-Jan Westra, Patrick Deelen, Lude Franke

    Published 2024
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  10. 30
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    Identifying the Effect of Ursolic Acid Against Triple-Negative Breast Cancer: Coupling Network Pharmacology With Experiments Verification by Yubao Zhang, Xiaoran Ma, Huayao Li, Jing Zhuang, Fubin Feng, Lijuan Liu, Cun Liu, Changgang Sun, Changgang Sun

    Published 2021
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  11. 31
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    Ser80Ile mutation and a concurrent Pro25Leu variant of the <it>VHL </it>gene in an extended Hungarian von Hippel-Lindau family by Fazakas Ferenc, Toth Miklos, Balogh Katalin, Gergics Peter, Patocs Attila, Liko Istvan, Racz Karoly

    Published 2008
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  12. 32
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    What's new in genetics of congenital heart defects by Maria Cristina Digilio, Bruno Marino

    Published 2016
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  13. 33
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    Loss of slc39a14 causes simultaneous manganese hypersensitivity and deficiency in zebrafish by Karin Tuschl, Richard J. White, Chintan Trivedi, Leonardo E. Valdivia, Stephanie Niklaus, Isaac H. Bianco, Chris Dadswell, Ramón González-Méndez, Ian M. Sealy, Stephan C. F. Neuhauss, Corinne Houart, Jason Rihel, Stephen W. Wilson, Elisabeth M. Busch-Nentwich

    Published 2022
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  14. 34
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    Genetic alterations in a primary medullary thyroid carcinoma and its lymph node metastasis in a patient with 15 years follow-up by González-Yebra Beatriz, Peralta Raúl, González Ana, Ayala-Garcia Marco, de Zarate María E Medrano Ortiz, Salcedo Mauricio

    Published 2012
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  15. 35
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    Exploring the immunomodulatory effects and mechanisms of Xinjiang fermented camel milk-derived bioactive peptides based on network pharmacology and molecular docking by Yuxing Wang, Zhuangzhuang Liang, Fang Shen, Wenting Zhou, Tabusi Manaer, Didaier Jiaerken, Xinhua Nabi

    Published 2023
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  16. 36
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    Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature by Flávia Balsamo, Pedro Augusto Soffner Cardoso, Sergio Aparecido do Amaral Junior, Therésè Rachell Theodoro, Flavia de Sousa Gehrke, Maria Aparecida da Silva Pinhal, Bianca Bianco, Jaques Waisberg

    Published 2020
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  17. 37
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    Establishing analytical validity of BeadChip array genotype data by comparison to whole-genome sequence and standard benchmark datasets by Praveen F. Cherukuri, Melissa M. Soe, David E. Condon, Shubhi Bartaria, Kaitlynn Meis, Shaopeng Gu, Frederick G. Frost, Lindsay M. Fricke, Krzysztof P. Lubieniecki, Joanna M. Lubieniecka, Robert E. Pyatt, Catherine Hajek, Cornelius F. Boerkoel, Lynn Carmichael

    Published 2022
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  18. 38
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    From Wolf-Hirschhorn syndrome to NSD2 haploinsufficiency: a shifting paradigm through the description of a new case and a review of the literature by Luisa Cortellazzo Wiel, Irene Bruno, Egidio Barbi, Fabio Sirchia

    Published 2022
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  19. 39
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    Transcriptional pathways of terminal differentiation in high- and low-density blood granulocytes in sepsis by Tobias Guenther, Anna Coulibaly, Sonia Y. Velásquez, Jutta Schulte, Tanja Fuderer, Timo Sturm, Bianka Hahn, Manfred Thiel, Holger A. Lindner

    Published 2024
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  20. 40
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    Clinical characteristics and genetics of ten Chinese children with PRRT2-associated neurological diseases by Meiyan Liu, Xiaoang Sun, Longlong Lin, Xiaona Luo, Simei Wang, Chunmei Wang, Yuanfeng Zhang, Quanmei Xu, Wuhen Xu, Shengnan Wu, Xiaoping Lan, Yucai Chen, Yucai Chen

    Published 2022
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