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101-110 trong số 122 kết quả
Vascular Ehlers-Danlos syndrome in children: evaluating the importance of diagnosis and follow-up during childhood
Tác giả: Niamh R Wilkinson, Elena Cervi, Bart Wagner, Deborah Morris-Rosendahl, Duncan Baker, Harpaul Flora, Kate von Klemperer, Toby Andrew, Neeti Ghali, Fleur S van Dijk
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc:  271.095
 
A patient with TPCN2-related hypopigmentation and ocular phenotype
Tác giả: Cécile Courdier, Vincent Michaud, Modibo Diallo, Claudio Plaisant, Eulalie Lasseaux, Isabelle Helot, Elodie Philippe, Els Vrielynck, Marjolaine Willems, Benoit Arveiler
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc:  624.17713
 
GestaltGAN: synthetic photorealistic portraits of individuals with rare genetic disorders
Tác giả: Aron Kirchhoff, Alexander Hustinx, Benjamin D Solomon, Peter Krawitz, Behnam Javanmardi, Tzung-Chien Hsieh, Fabian Brand, Fabio Hellmann, Silvan Mertes, Elisabeth André, Shahida Moosa, Thomas Schultz
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc:  150.1982
 
Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice
Tác giả: Jeanette Yuen, Siqin Zhou, Rebecca Caeser, Mallika Venkatramani, Diana Nur Bte Ishak, Shao-Tzu Li, Zewen Zhang, Jianbang Chiang, Sock Hoai Chan, Joanne Ngeow
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc:  553.453
 
Optimising the mainstreaming of renal genomics: Complementing empirical and theoretical strategies for implementation
Tác giả: Lin Cheng, Nathasha Kugenthiran, Catherine Quinlan, Zornitza Stark, Kushani Jayasinghe, Stephanie Best
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc:  577.22
 
Exome sequencing identifies HELB as a novel susceptibility gene for non-mucinous, non-high-grade-serous epithelial ovari...
Tác giả: Ed M Dicks, Jonthan P Tyrer, Toon Van Gorp, Anna De Fazio, David D L Bowtell, Dale W Garsed, Kunle Odunsi, Kirsten Moysich, Marina Pavanello, Florentia Fostira, Penelope M Webb, Jana Soukupová, Suzana Ezquina, Paul A Cohen, Weiva Sieh, Renée Turzanski Fortner, Charite Ricker, Beth Karlan, Ian Campbell, James D Brenton, Susan J Ramus, Simon A Gayther, Paul D P Pharoah, Michelle Jones, John Baierl, Pei-Chen Peng, Michael Diaz, Ellen Goode, Stacey J Winham, Thilo Dörk
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc:  001.944
 
Complete loss of IFT27 function leads to a phenotypic spectrum of fetal lethal ciliopathy associated with altered ciliog...
Tác giả: David Haïm, Nathalie Roux, Sarah Vanlieferinghen, Sophie Thomas, Tania Attié-Bitach, Lucile Boutaud, Laure Verlin, Chloé Quélin, Candice Moncler, Nicolas Bourgon, Amale Achaiia, Philippe Roth, Pierre Marijon
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc:  004.618
 
Complete loss of IFT27 function leads to a phenotypic spectrum of fetal lethal ciliopathy associated with altered ciliog...
Tác giả: David Haïm, Amale Achaiia, Tania Attié-Bitach, Nicolas Bourgon, Lucile Boutaud, Pierre Marijon, Candice Moncler, Chloé Quélin, Philippe Roth, Nathalie Roux, Sophie Thomas, Sarah Vanlieferinghen, Laure Verlin
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc:  004.618
 
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:  299.672
 
Emerging threat of Human Metapneumovirus (HMPV) and strategies for its containment and control
Tác giả: Sridevi Gnanasekaran, Md Abu Bashar, Prabhat Prabhat, Abin K Rajan
Xuất bản: Netherlands: Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases , 2025
Bộ sưu tập: NCBI
ddc:  344.04196
 

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