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41-50 trong số 146 kết quả
Caregivers and multidisciplinary team members' perspectives on shared decision making in Duchenne muscular dystrophy: A ...
Tác giả: Elise Schoefs, Thomas Desmet, Rosanne Janssens, Isabelle Huys, Evelyn Lerinckx, Liesbeth De Waele, Sam Geuens, Conny Pelicaen, Luc Meeus, Steven Simoens, Chantal Van Audenhove, Mieke Mommen
Xuất bản: England: Orphanet journal of rare diseases , 2025
Bộ sưu tập: NCBI
ddc:  573.89
 
Pregnancy-related issues in rare and low-prevalence diseases: results of ERN transversal working group on pregnancy and ...
Tác giả: Dina Zucchi, Diana Marinello, Maria Luisa Brandi, Ester Costafreda, Joao E Fonseca, Micaela Fredi, Violeta Iotova, Simone Louisse, Cecilia Nalli, Michela Onali, Beverley Power, Christine Rousset-Jablonski, Chiara Tani, Dominique Sturz, Angela Tincani, Ana Vieira, Susana Capela, Dorica Dan, Julie De Backer, Christine de Die-Smulders, Andreas Dufke, Estelle Lecointe Artzner, Giuseppe Limongelli, Giovanni Fulvio, Birgit Lorenz, Wiebke Papenthin, María Jesús Pascau, Johanna Raidt, Isabelle Ray-Coquard, Rachel Rimmer, Claas Röhl, Holm Schneider, Tet Yap, Rosaria Talarico, Silvia Aguilera, Marta Mosca, Alexandra Benachi, Ruth Biller, Ignacio Blanco, Petra Borgards, Marie-Claude Boiteux
Xuất bản: England: Orphanet journal of rare diseases , 2025
Bộ sưu tập: NCBI
ddc:  004.338
 
DNAH9 variants in children with post-infectious bronchiolitis/bronchitis obliterans
Tác giả: Yuhong Guan, Xiaoyan Zhang, Xiaolei Tang, Haiming Yang, Shunying Zhao
Xuất bản: England: Orphanet journal of rare diseases , 2025
Bộ sưu tập: NCBI
ddc:  355.021
 
How does a preference-based generic health-related quality of life measure perform in patients with a rare disease? Meas...
Tác giả: Wanxian Liang, Shihuan Cao, Yusi Suo, Lining Zhang, Lujia Yang, Hanfei Wang, Han Wang, Xuejing Jin
Xuất bản: England: Orphanet journal of rare diseases , 2025
Bộ sưu tập: NCBI
ddc:  636.08842
 
Whole-exome sequencing identifies distinct genomic aberrations in eccrine porocarcinomas and poromas
Tác giả: Maya Puttonen, Henrikki Almusa, Tom Böhling, Virve Koljonen, Harri Sihto
Xuất bản: England: Orphanet journal of rare diseases , 2025
Bộ sưu tập: NCBI
ddc:  518.6
 
Patient involvement in clinical trials: a paradigm shift in research
Tác giả: Jordi Pijuan, Francesc Palau
Xuất bản: England: Orphanet journal of rare diseases , 2025
Bộ sưu tập: NCBI
ddc:  344.044
 
Evaluating the efficacy of vatiquinone in preclinical models of Leigh syndrome and GPX4 deficiency
Tác giả: Ernst-Bernhard Kayser, Michael Mulholland, Simon C Johnson, Elizaveta A Olkhova, Yihan Chen, Holly Coulson, Owen Cairns, Vivian Truong, Katerina James, Brittany M Johnson, Allison Hanaford
Xuất bản: England: Orphanet journal of rare diseases , 2025
Bộ sưu tập: NCBI
ddc:  004.338
 
A phase 2 randomized, double-blind trial of ART-001, a selective PI3Kα inhibitor, for the treatment of slow-flow vascula...
Tác giả: Michio Ozeki, Akira Tanaka, Aiko Kato, Hiro Kiyosue, Kotaro Imagawa, Munetomo Nagao, Fumiaki Shimizu, Junko Ochi, Saya Horiuchi, Tetsuji Ohyama, Haruhi Ando, Hiroshi Nagabukuro, Kanako Kuniyeda, Taiki Nozaki, Akihiro Fujino, Tadashi Nomura, Naoto Uemura, Souichi Suenobu, Noriko Aramaki-Hattori, Ayato Hayashi
Xuất bản: England: Orphanet journal of rare diseases , 2025
Bộ sưu tập: NCBI
ddc:  615.43
 
Cardiac manifestations in adult MELAS syndrome (mitochondrial encephalomyopathy with lactic acidosis and stroke-like epi...
Tác giả: Dietrich Stoevesandt, Axel Schlitt, Philipp Röntgen, Torsten Kraya
Xuất bản: England: Orphanet journal of rare diseases , 2025
Bộ sưu tập: NCBI
ddc:  972.8202
 
Impact of enzyme replacement therapy and migalastat on disease progression in females with fabry disease
Tác giả: Malte Lenders, Albina Nowak, Markus Cybulla, Jessica Kaufeld, Anja Friederike Köhn, Nicole Maria Muschol, Christine Kurschat, Eva Brand
Xuất bản: England: Orphanet journal of rare diseases , 2025
Bộ sưu tập: NCBI
ddc:  612.665
 

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