Research Papers

25 of 1981 papers

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Translating patient needs into medical device development: co-design of a photoprotection visor for Xeroderma Pigmentos…
Graham T; Sooriah S; Chang YS; Hashimdeen S; Meydan T; Grocott P.
Orphanet J Rare Dis (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
European reference network for rare inherited congenital anomalies (ERNICA) evidence based guideline on the management …
Burgos CM; Irvine W; Vivanti A; Conner P; Machtejeviene E; Peters N; Sabria J; Torres AS; Tognon C; Sgró A; Kouvisalo A; Langeveld-Benders H; Sfeir R; Miserez M; Qvist N; Lokosiute-Urboniene A; Zahn K; Brendel J; Prat J; Eaton S; Benachi A.
Orphanet J Rare Dis (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
Clinical symptoms, biochemistry, and liver histology during the native liver period of progressive familial intrahepati…
Kondou H; Nakano S; Mizuno T; Bessho K; Hasegawa Y; Nakazawa A; Tanikawa K; Azuma Y; Okamoto T; Inui A; Imagawa K; Kasahara M; Zen Y; Suzuki M; Hayashi H.
Orphanet J Rare Dis (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
Needs of amyloidosis patients and their care providers: design & first results of the  <sub>A</sub>MY-NEED<sub>S</sub> …
Ihne-Schubert SM; Radovic T; Fries S; Frantz S; Einsele H; Störk S; Neuderth S.
Orphanet J Rare Dis (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
Barriers to gene therapy, understanding the concerns people with haemophilia have: an exigency sub-study.
Fletcher S; Jenner K; Holland M; Khair K.
Orphanet J Rare Dis (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
Risk factors associated with severe adverse events in patients with relapsing polychondritis undergoing flexible bronch…
Wang ST; Wang J; Gao X; Chen K; Xu KF; Tian X.
Orphanet J Rare Dis (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
Performance and clinical utility of a new supervised machine-learning pipeline in detecting rare ciliopathy patients ba…
Faviez C; Vincent M; Garcelon N; Boyer O; Knebelmann B; Heidet L; Saunier S; Chen X; Burgun A.
Orphanet J Rare Dis (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
Identification of copy number variations among fetuses with isolated ultrasound soft markers in pregnant women not of a…
Liu Y; Liu S; Liu J; Bai T; Jing X; Deng C; Xia T; Cheng J; Xing L; Wei X; Luo Y; Zhou Q; Xie D; Xiong Y; Liu L; Zhu Q; Liu H.
Orphanet J Rare Dis (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
Clinical and genetic characterization of 47 Chinese pediatric patients with Pitt-Hopkins syndrome: a retrospective stud…
Zhao T; Wu S; Shen Y; Leng J; Genchev GZ; Lu H; Feng J.
Orphanet J Rare Dis (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
The effects of etidronate on brain calcifications in Fahr's disease or syndrome: rationale and design of the randomised…
Snijders BM; Mathijssen G; Peters MJ; Emmelot-Vonk MH; de Jong PA; Bakker S; Crommelin HA; Ruigrok YM; Brilstra EH; Schepers VP; Spiering W; van Valen E; Koek HL.
Orphanet J Rare Dis (Unknown)
Published: 2024
4/6 Transparent
Registered Funding Declared
Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis.
Cirnigliaro L; Pettinato F; Valle MS; Casabona A; Fiumara A; Vecchio M; Amico V; Rizzo R; Jaeken J; Barone R; Cioni M.
Orphanet J Rare Dis (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
Accelerating drug development for amyotrophic lateral sclerosis: construction and application of a disease course model…
Cai R; Yang J; Wu L; Liu Y; Wang X; Zheng Q; Li L.
Orphanet J Rare Dis (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
Cronkhite‒Canada syndrome as inflammatory hamartomatous polyposis: new evidence from whole transcriptome sequencing of …
Liu S; Zhi Y; Zhang R; You Y; You W; Xu Q; Li J; Li J.
Orphanet J Rare Dis (Unknown)
Published: 2024
4/6 Transparent
Data Funding Declared
Rett syndrome in Ireland: a demographic study.
Zade K; Campbell C; Bach S; Fernandes H; Tropea D.
Orphanet J Rare Dis (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
Coexistence of meningioma and craniofacial fibrous dysplasia: a case series of clinicopathological study and literature…
Song X; Li Z.
Orphanet J Rare Dis (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
A web-based psychological support program for caregivers of children with rare chronic diseases: a randomized controlle…
Tutus D; Niemitz M; Plener PL; Fegert JM; Lehmann C; Weiss C; Knaevelsrud C; Biehl L; Rassenhofer M.
Orphanet J Rare Dis (Unknown)
Published: 2024
4/6 Transparent
Registered Funding Declared
Review of published 467 achondroplasia patients: clinical and mutational spectrum.
Zhang X; Jiang S; Zhang R; Guo S; Sheng Q; Wang K; Shan Y; Liao L; Dong J.
Orphanet J Rare Dis (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
Coding undiagnosed rare disease patients in health information systems: recommendations from the RD-CODE project.
Angin C; Mazzucato M; Weber S; Kirch K; Abdel Khalek W; Ali H; Maiella S; Olry A; Jannot AS; Rath A.
Orphanet J Rare Dis (Unknown)
Published: 2024
5/6 Transparent
Data Code Funding Declared
Are the European reference networks for rare diseases ready to embrace machine learning? A mixed-methods study.
Iskrov G; Raycheva R; Kostadinov K; Gillner S; Blankart CR; Gross ES; Gumus G; Mitova E; Stefanov S; Stefanov G; Stefanov R.
Orphanet J Rare Dis (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for inn…
Salort-Campana E; Solé G; Magot A; Tard C; Noury JB; Behin A; De La Cruz E; Boyer F; Lefeuvre C; Masingue M; Debergé L; Finet A; Brison M; Spinazzi M; Pegat A; Sacconi S; Malfatti E; Choumert A; Bellance R; Bedat-Millet AL; Feasson L; Vuillerot C; Jacquin-Piques A; Michaud M; Pereon Y; Stojkovic T; Laforêt P; Attarian S; Cintas P.
Orphanet J Rare Dis (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
Long-term monitoring of fatty acid oxidation defects: results from a MetabERN survey.
Schwantje M; Grünert SC; Fuchs SA.
Orphanet J Rare Dis (Unknown)
Published: 2024
4/6 Transparent
Data Funding Declared
Factors affecting the ability of patients with complex vascular anomalies to navigate the healthcare system.
Sisk B; Lin S; Kerr AM.
Orphanet J Rare Dis (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
A review and recommendations for oral chaperone therapy in adult patients with Fabry disease.
Nowicki M; Bazan-Socha S; Błażejewska-Hyżorek B; Kłopotowski MM; Komar M; Kusztal MA; Liberek T; Małyszko J; Mizia-Stec K; Oko-Sarnowska Z; Pawlaczyk K; Podolec P; Sławek J; Polish Fabry Disease Collaborative Group.
Orphanet J Rare Dis (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
A position statement on the post gene-therapy rehabilitation of aromatic I-amino acid decarboxylase deficiency patients.
Lee HM; Mercimek-Andrews S; Horvath G; Marchese D; Poulin RE; Krolick A; Tierney KL; Turna J; Wei J; Hwu WL.
Orphanet J Rare Dis (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study.
Bisschoff M; Smuts I; Dercksen M; Schoonen M; Vorster BC; van der Watt G; Spencer C; Naidu K; Henning F; Meldau S; McFarland R; Taylor RW; Patel K; Fassad MR; Vandrovcova J; ICGNMD Consortium; Wanders RJA; van der Westhuizen FH.
Orphanet J Rare Dis (Unknown)
Published: 2024
3/6 Transparent
Funding Declared