Loại tài liệu:    Chỉ tìm trong: 
31-40 trong số 59 kết quả
Gynecological issues in children and adolescents seen at rare-disease referral centers: an observational retrospective c...
Tác giả: Iphigénie Cavadias, Magali Viaud, Smaïl Hadj-Rabia, Laurence Heidet, Slimane Allali, Pascale de Lonlay, Jeanne Amiel, Rima Nabbout, Despina Moshous, Valérie Cormier-Daire, Arnaud Picard, Isabelle Desguerre, Marie Falampin, Isabelle Sermet-Gaudelus, Graziella Pinto, Dominique Bremond-Gignac, Frank Ruemmele, Muriel Girard, Véronique Abadie, Syril James, Annie Harroche, Michel Polak, Sabrina Da Costa, Alaa Cheikhelard, Karinne Gueniche, Chloé Ouallouche, Dinane Samara-Boustani, Damien Bonnet, Nadia Bahi-Buisson, Pierre Quartier-Dit-Maire
Xuất bản: England: Orphanet journal of rare diseases , 2025
Bộ sưu tập: NCBI
ddc:  649
 
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
 
Retrospective assessment of clinical global impression of severity and change in GM1 gangliosidosis: a tool to score nat...
Tác giả: Connor J Lewis, Jean M Johnston, Silvia Zaragoza Domingo, Gilbert Vezina, Precilla D'Souza, William A Gahl, David A Adams, Cynthia J Tifft, Maria T Acosta
Xuất bản: England: Orphanet journal of rare diseases , 2025
Bộ sưu tập: NCBI
ddc:  577
 
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
 
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
 

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