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101-110 trong số 116 kết quả
Origin and evolution of pentanucleotide repeat expansions at the familial cortical myoclonic tremor with epilepsy type1 ...
Tác giả: Xinhui Chen, Fan Zhang, Aisi Fu, Ben Hu, Bo Wang, Zhiyuan Ouyang, Sheng Wu, Zhiru Lin, Zhidong Cen, Wei Luo, Yihua Shi, Haotian Wang, Miao Chen, Dehao Yang, Lebo Wang, Peng Liu, Fei Xie, Jiawen Chen
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc: 
 
The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominates
Tác giả: Rebecca Kriukelis, Michael T Gabbett, Rachael Beswick, Aideen M McInerney-Leo, Carlie Driscoll, Karen Liddle
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc: 
 
Negotiating severity behind the scenes: prenatal testing in Germany
Tác giả: Tamar Nov-Klaiman, Hilary Bowman-Smart, Ruth Horn
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc: 
 
Beyond severity: utility as a criterion for setting the scope of RGCS
Tác giả: Lisa Dive, Anne-Marie Laberge, Lucinda Freeman, Eline M Bunnik
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc: 
 
Investigation of a pathogenic inversion in UNC13D and comprehensive analysis of chromosomal inversions across diverse da...
Tác giả: Tugce Bozkurt-Yozgatli, Jesse D Bengtsson, Claudia M B Carvalho, Ivan K Chinn, Zeynep Coban-Akdemir, Ming Yin Lun, Ugur Sezerman
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc: 
 
Two distinct phenotypes in Snijders Blok-Campeau syndrome and characterization of the behavioral phenotype in a zebrafis...
Tác giả: Yumi Enomoto, Takashi Shiromizu, Takuya Naruto, Shizuka Shiiya, Naoko Omotani, Yuhei Nishimura, Kenji Kurosawa, Sakyo Yasojima, Junko Koiwa, Yukiko Kuroda, Hiroaki Ito, Mizuki Yuge, Momoka Ohkawa, Ryohei Shibata, Hiroaki Murakami
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc:  729.6
 
Negotiating the space and time conundrum in human zygotes: chaos theory in action
Tác giả: David F Albertini
Xuất bản: Netherlands: Journal of assisted reproduction and genetics , 2025
Bộ sưu tập: NCBI
ddc:  296.3117
 
Human oocyte zona pellucida abnormalities: evaluation of clinical impact for different zona pellucida abnormalities and role of using assisted hatching
Tác giả: Huihui Wang, Guang Yang, Yue Kong, Jiahuan He, Ning Song, Zhaoting Wu, Xianju Huang, Lin Qi, Guidong Yao, Ran Jiang, Jun Zhai, Haixia Jin, Wenyan Song, Senlin Shi, Junnan Fang, Tongwei Zhang, Jingyi Hu
Xuất bản: Netherlands: Journal of assisted reproduction and genetics , 2025
Bộ sưu tập: NCBI
ddc:  272.3
 
Identification of diagnostic genes and the miRNA‒mRNA‒TF regulatory network in human oocyte aging via machine learning methods
Tác giả: Xi Luo, Mingming Liang, Dandan Zhang, Ben Huang
Xuất bản: Netherlands: Journal of assisted reproduction and genetics , 2025
Bộ sưu tập: NCBI
ddc:  153.152
 
Duration of cryostorage is not associated with rates of thaw survival, fertilization, blastulation and ploidy, or pregnancy outcomes of vitrified human oocytes
Tác giả: Sarah Roger, Morgan Baird, Christine Briton-Jones, Alan Copperman, Rachel Danis, Samantha Estevez, Atoosa Ghofranian, Carlos Hernandez-Nieto, Shawn Kripalani, Joseph Lee, Richard Slifkin
Xuất bản: Netherlands: Journal of assisted reproduction and genetics , 2025
Bộ sưu tập: NCBI
ddc: 
 

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