Loại tài liệu:    Chỉ tìm trong: 
31-40 trong số 58 kết quả
The economic impact of caregiving for individuals with Angelman syndrome in the United States: results from a caregiver ...
Tác giả: John Jarvis, Elizabeth Chertavian, Marric Buessing, Taylor Renteria, Lufei Tu, Lauren Hoffer, Ryan Fischer, Amanda Moore, Meagan Cross, Megan Tones
Xuất bản: England: Orphanet journal of rare diseases , 2025
Bộ sưu tập: NCBI
ddc:  363.1063
 
Patient-centered assessment of treatment for alpha-1 antitrypsin deficiency: literature review to identify concepts and ...
Tác giả: Ekin Seçinti, Karolina Schantz, Laure Delbecque, John Krege, Rikki Mangrum, Sarah E Curtis
Xuất bản: England: Orphanet journal of rare diseases , 2025
Bộ sưu tập: NCBI
ddc:  021
 
Perspectives on long-term medical management of urea cycle disorders: insights from a survey of UK healthcare profession...
Tác giả: Karolina M Stepien, Melanie McSweeney, Antonio Ochoa-Ferraro, Paul Riley, Megan Smith, Roshni Vara
Xuất bản: England: Orphanet journal of rare diseases , 2025
Bộ sưu tập: NCBI
ddc:  133.5266
 
Clinical features and current management experience in Gorham-Stout disease: a systematic review
Tác giả: Zilong Zhou, Xue Gong, Yi Ji, Yuru Lan, Tong Qiu, Shanshan Xiang, Congxia Yang, Xuepeng Zhang, Yujia Zhang, Zixin Zhang, Jiangyuan Zhou
Xuất bản: England: Orphanet journal of rare diseases , 2025
Bộ sưu tập: NCBI
ddc:  553.3
 
Development of the natural history component of an early economic model for primary sclerosing cholangitis
Tác giả: Christopher Bowlus, Andrew Briggs, Sushanth Jeyakumar, Nandita Kachru, Kris V Kowdley, Cynthia Levy, Daniel Ollendorf, Yael Rodriguez-Guadarrama, Mark Sculpher, Nathaniel Smith
Xuất bản: England: Orphanet journal of rare diseases , 2025
Bộ sưu tập: NCBI
ddc:  338.9
 
Novel POMT2 variants associated with limb-girdle muscular dystrophy R14: genetic, histological and functional studies
Tác giả: Guiguan Yang, Yifei Feng, Pengfei Lin, Meirong Liu, Xiaoqing Lv, Guangyu Wang, Wenjing Wu, Chuanzhu Yan, Mengqi Yang
Xuất bản: England: Orphanet journal of rare diseases , 2025
Bộ sưu tập: NCBI
ddc:  011.09
 
Texture analysis of cardiovascular MRI native T1 mapping in patients with Duchenne muscular dystrophy
Tác giả: Mary Luz Mojica-Pisciotti, Věra Feitová, Tomáš Holeček, Lukáš Opatřil, Roman Panovský
Xuất bản: England: Orphanet journal of rare diseases , 2025
Bộ sưu tập: NCBI
ddc:  133.594
 
Genotype and cardiac outcome in patients with cardiocutaneous syndrome (Naxos disease variant: Carvajal syndrome)
Tác giả: Maha Binfadel, Dimpna Calila Albert-Brotons, Mohamed Umair Aleem, Mohammed Alhabdan, Zuhair AlHassnan, Nadiah Alruwaili, Sahar Tulbah, Olga Vriz
Xuất bản: England: Orphanet journal of rare diseases , 2025
Bộ sưu tập: NCBI
ddc:  809.008
 
'You constantly have to be switched on': A qualitative interview study of parents of children with STXBP1-related disord...
Tác giả: Sietske A L van Till, Hilgo Bruining, Eline M Bunnik, Sybren Sybesma, Matthijs Verhage
Xuất bản: England: Orphanet journal of rare diseases , 2025
Bộ sưu tập: NCBI
ddc:  005.116
 
Clinical and economic burden of achondroplasia in the United States: results from a retrospective, observational study
Tác giả: Nadia Merchant, Jose Alvir, Christine L Baker, Jose Francisco Cara, Paulette Negron Ericksen, Jane Loftus, Alison Slade, Michael P Wajnrajch
Xuất bản: England: Orphanet journal of rare diseases , 2025
Bộ sưu tập: NCBI
ddc:  297.642
 

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