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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Syndrome and DNAH5[original query]
Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia.
Human reproduction (Oxford, England) 2008 Aug 23 (8): 1957-62.
Zuccarello D, Ferlin A, Cazzadore C, Pepe A, Garolla A, Moretti A, Cordeschi G, Francavilla S, Foresta
Identification of Pathogenic Mutations and Investigation of the NOTCH Pathway Activation in Kartagener Syndrome.
Frontiers in genetics 2019 10 749.
Yue Yongjian, Huang Qijun, Zhu Peng, Zhao Pan, Tan Xinjuan, Liu Shengguo, Li Shulin, Han Xuemei, Cheng Linling, Li Bo, Fu Yingy
Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia.
The European respiratory journal 2021 1 58 (2): .
Shoemark Amelia, Rubbo Bruna, Legendre Marie, Fassad Mahmoud R, Haarman Eric G, Best Sunayna, Bon Irma C M, Brandsma Joost, Burgel Pierre-Regis, Carlsson Gunnar, Carr Siobhan B, Carroll Mary, Edwards Matt, Escudier Estelle, Honoré Isabelle, Hunt David, Jouvion Gregory, Loebinger Michel R, Maitre Bernard, Morris-Rosendahl Deborah, Papon Jean-Francois, Parsons Camille M, Patel Mitali P, Thomas N Simon, Thouvenin Guillaume, Walker Woolf T, Wilson Robert, Hogg Claire, Mitchison Hannah M, Lucas Jane
Prognostic mutations identified by whole-exome sequencing and validation of the Molecular International Prognostic Scoring System in myelodysplastic syndromes after allogeneic haematopoietic stem cell transplantation.
British journal of haematology 2024 8 .
Hong Wang, Xueqian Li, Jiaqian Qi, Hong Liu, Tiantian Chu, Xiaoyan Xu, Huiying Qiu, Chengcheng Fu, Xiaowen Tang, Changgeng Ruan, Depei Wu, Yue H
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