Loại tài liệu:    Chỉ tìm trong: 
121-130 trong số 146 kết quả
Health outcomes following COVID-19 infection and vaccination in hereditary hemorrhagic telangiectasia
Tác giả: Christopher M Tarulli, Kamalprit Chokar, Marianne S Clancy, Marie E Faughnan, Xiayi Ma, Nicholas T Vozoris
Xuất bản: England: Orphanet journal of rare diseases , 2025
Bộ sưu tập: NCBI
ddc:  610.7346
 
Diagnosis of hereditary transthyretin amyloidosis in patients with suspected chronic inflammatory demyelinating polyneur...
Tác giả: Yann Péréon, David Adams, Shahram Attarian, Jean-Philippe Camdessanché, Jean-Baptiste Chanson, Pascal Cintas, Cyrla Hababou, Laurent Magy, Aïssatou Signaté, Guilhem Solé, Juliette Svahn, Céline Tard
Xuất bản: England: Orphanet journal of rare diseases , 2025
Bộ sưu tập: NCBI
ddc:  155.282
 
'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:  333.822
 
Endocrine manifestations and long-term outcomes of patients with mitochondrial diseases
Tác giả: Ja Hye Kim, Jin-Ho Choi, Soojin Hwang, Dohyung Kim, Gu-Hwan Kim, Beom Hee Lee, Han-Wook Yoo
Xuất bản: England: Orphanet journal of rare diseases , 2025
Bộ sưu tập: NCBI
ddc:  616.4
 
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:  070.48346
 

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