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411-420 trong số 845 kết quả
Novel p.Arg534del Mutation and MTHFR C667T Polymorphism in Fragile X Syndrome (FXS) With Autism Spectrum Phenotype: A Ca...
Tác giả: Hasan Hasan, Ellery R Santos, Seyedeh Ala Mokhtabad Amrei, Flora Tassone, Jamie Leah Randol, Paul Hagerman, Randi J Hagerman
Xuất bản: United States: Case reports in genetics , 2025
Bộ sưu tập: NCBI
ddc:  576.549
 
Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome
Tác giả: Karim Karimi, Yael Lichtenstein, Thomas Smol, Katie Clarkson, Katy Drazba, Raymond J Louie, Valancy Miranda, Cathleen McCann, Jamie Motta, Emily Lancaster, Suzanne Sallevelt, Richard Sidlow, Jack Reilly, Jennifer Morrison, Mark Hannibal, Jessica O'Shea, Victor Marin, Chitra Prasad, Chirag Patel, Salmo Raskin, Seco Moro Maria-Noelia, Aranzazú Diaz de Bustamante, Daphna Marom, Haley McConkey, Tali Barkan, Boris Keren, Celine Poirsier, Lior Cohen, Estelle Colin, Kathleen Gorman, Emily Gallant, Leonie A Menke, Irene Valenzuela Palafoll, Natalie Hauser, Raissa Relator, Ingrid M Wentzensen, Julia Rankin, Peter D Turnpenny, Philippe M Campeau, Tugce B Balci, Matthew L Tedder, Bekim Sadikovic, Karin Weiss, Michael A Levy, Jennifer Kerkhof, Arjan Bouman, Joseph D Symonds, Jamal Ghoumid
Xuất bản: United States: American journal of human genetics , 2025
Bộ sưu tập: NCBI
ddc:  133.548
 
Characterizing substructure via mixture modeling in large-scale genetic summary statistics
Tác giả: Hayley R Stoneman, Adelle M Price, Katie M Marker, Audrey E Hendricks, Nikole Scribner Trout, Riley Lamont, Souha Tifour, Nikita Pozdeyev, Kristy Crooks, Meng Lin, Nicholas Rafaels, Christopher R Gignoux
Xuất bản: United States: American journal of human genetics , 2025
Bộ sưu tập: NCBI
ddc:  003.71
 
A unified framework for cell-type-specific eQTL prioritization by integrating bulk and scRNA-seq data
Tác giả: Xinyi Yu, Xianghong Hu, Xiaomeng Wan, Zhiyong Zhang, Xiang Wan, Mingxuan Cai, Tianwei Yu, Jiashun Xiao
Xuất bản: United States: American journal of human genetics , 2025
Bộ sưu tập: NCBI
ddc:  809.8
 
Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilep...
Tác giả: Rebecca Buchert, Martin D Burkhalter, Ulviyya Guliyeva, Moath Hamdallah, Muriel Holder-Espinasse, Rauan Kaiyrzhanov, Doreen Klingler, Mahmoud Koko, Lars Matthies, Joohyun Park, Marc Sturm, Ana Velic, Chrisovalantou Huridou, Stephanie Spranger, Tipu Sultan, Hartmut Engels, Holger Lerche, Henry Houlden, Alistair T Pagnamenta, Ingo Borggraefe, Yvonne Weber, Penelope E Bonnen, Reza Maroofian, Linda Sofan, Olaf Riess, Jonasz J Weber, Melanie Philipp, Tobias B Haack, Timo Roser, Kirsten Cremer, Javeria Raza Alvi, Stephanie Efthymiou, Tawfiq Froukh, Sughra Gulieva
Xuất bản: United States: American journal of human genetics , 2025
Bộ sưu tập: NCBI
ddc:  001.1
 
Genetic association between LHCGR variants and polycystic ovary syndrome: a meta-analysis
Tác giả: Sukhjashanpreet Singh, Mandeep Kaur, Pallvi Thapar, Anupam Kaur
Xuất bản: Netherlands: Journal of assisted reproduction and genetics , 2025
Bộ sưu tập: NCBI
ddc:  616.858841
 
Current status and hotspots of in vitro oocyte maturation: a bibliometric study of the past two decades
Tác giả: Yi-Ru Chen, Chun Feng, Min Jin, Yi-Ru Jin, Ping-Ping Lv, Wei-Wei Yin
Xuất bản: Netherlands: Journal of assisted reproduction and genetics , 2025
Bộ sưu tập: NCBI
ddc: 
 
Comparison of chromatin accessibility remodeling of granulosa cells in patients with endometrioma or pelvic/tubal infert...
Tác giả: Songbang Ou, Chunwei Cao, Jia Huang, Xuedan Jiao, Ruiqi Li, Yi Li, Ping Pan, Xiaoyue Sun, Wenjun Wang, Lina Wei, Qingxue Zhang
Xuất bản: Netherlands: Journal of assisted reproduction and genetics , 2025
Bộ sưu tập: NCBI
ddc: 
 
Pathogenesis of testicular dysfunction in diabetes: exploring the mechanism and therapeutic interventions
Tác giả: Olabimpe Caroline Badejogbin, Mary Olaoluwa Agunloye, Ojichukwuka Ebere Chijioke-Agu, Makinde Vincent Olubiyi
Xuất bản: Netherlands: Journal of assisted reproduction and genetics , 2025
Bộ sưu tập: NCBI
ddc: 
 
Clinical utilization and outcomes over eight consecutive years following oocyte cryopreservation
Tác giả: Gayathree Murugappan, Julia Kim, Peter Klatsky, Debra Minjarez, Mark Sikder, Nam Tran, Sergio Vaccari
Xuất bản: Netherlands: Journal of assisted reproduction and genetics , 2025
Bộ sưu tập: NCBI
ddc: 
 

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