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
 
Toward European harmonization of national myasthenia gravis registries: modified Delphi procedure-based expert consensus...
Tác giả: Abderhmane Slioui, Giulia Tammam, Jonathan Pini, Frauke Stascheit, Shahram Attarian, Ernestina Santos, Jan Verschuuren, Lou Canonge, Jeremy Garcia, Caroline Perriard, Elena Cortés-Vicente, Renato Mantegazza, Fiammetta Vanoli, Andreas Meisel, Sabrina Sacconi, Adela Della Marina, Stanislav Vohanka, Nils Erik Gilhus, Isabella Moroni, Maria Isabel Leite, Fredrik Piehl, Carlo Antozzi
Xuất bản: England: Orphanet journal of rare diseases , 2025
Bộ sưu tập: NCBI
ddc:  325
 
Mental health conditions, physical functioning, and health-related quality of life in adults with a skeletal dysplasia: ...
Tác giả: Elisabeth Fagereng, Su Htwe, Svein Fredwall, Sam McDonald, Chloe Derocher, Marta Bertoli, Erin Carter, Anne-Mette Bredahl, Taran Blakstvedt, Micheal Wright, Cathleen Raggio
Xuất bản: England: Orphanet journal of rare diseases , 2025
Bộ sưu tập: NCBI
ddc:  234.131
 
Caregiver burden and familial impact in Down Syndrome Regression Disorder
Tác giả: Katherine Chow, Panteha Hayati Rezvan, Jonathan D Santoro, Lilia Kazerooni, Lina Nguyen, Natalie K Boyd, Benjamin N Vogel, Maeve C Lucas, Ruth Brown, Eileen A Quinn, Saba Jafarpour
Xuất bản: England: Orphanet journal of rare diseases , 2025
Bộ sưu tập: NCBI
ddc:  341.442
 
Clinical and genetic aspects of Bardet-Biedl syndrome in adults in Norway
Tác giả: Cecilie Fremstad Rustad, Ragnheidur Bragadottir, Charlotte von der Lippe, Solrun Sigurdardottir, Kristian Tveten, Hilde Nordgarden, Jeanette Ullmann Miller, Pamela Marika Åsten, Gisela Vasconcelos, Mari Ann Kulseth, Øystein Lunde Holla, Hanne Gro Olsen
Xuất bản: England: Orphanet journal of rare diseases , 2025
Bộ sưu tập: NCBI
ddc:  553.3
 
Early oxytocin treatment in infants with Prader-Willi syndrome is safe and is associated with better endocrine, metaboli...
Tác giả: Marion Valette, Catherine Arnaud, Grégoire Benvegnu, Kader Boulanouar, Sophie Çabal, Julie Cortadellas, Gwenaelle Diene, Sandy Faye, Mélanie Glattard, Catherine Molinas, Pierre Payoux, Jean-Pierre Salles, Maithé Tauber
Xuất bản: England: Orphanet journal of rare diseases , 2025
Bộ sưu tập: NCBI
ddc:  344.08
 
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
 
'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
 

Truy cập nhanh danh mục