Rare diseases

Rare diseases

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Featured Article
https://doi.org/10.12688/f1000research.5577.1
Editorial metrics NOT PEER REVIEWED
Collecting rare diseases
[version 1; peer review: not peer reviewed]
Sean Ekins
PUBLISHED 31 Oct 2014
https://doi.org/10.12688/f1000research.165476.1
Case Report metrics AWAITING PEER REVIEW
Case Report: Kaposi Sarcoma in Anti-Glomerular Basement Membrane Disease
[version 1; peer review: awaiting peer review]
Rahma Guesmi, Raja Boukadida, Sanda Mrabet, Dorsaf Zellama, Zohra Sassi Jalleli
Peer Reviewers Invited
PUBLISHED 08 Sep 2025
https://doi.org/10.12688/f1000research.169781.1
Case Report metrics AWAITING PEER REVIEW
Case Report: Chilaiditi syndrome as an emergency diagnostic challenge: case report and literature review
[version 1; peer review: awaiting peer review]
Neila Maaroufi, Sirine Neji, ihsen abdeslem, dorsaf Moualhi, leila jedidi
Peer Reviewers Invited
  • Funder
  • The authors declare that no grants were involved in supporting this work.
PUBLISHED 02 Sep 2025
https://doi.org/10.12688/f1000research.165960.1
Systematic Review metrics AWAITING PEER REVIEW
Pregnancy with osteogenesis imperfecta: A scoping review
[version 1; peer review: awaiting peer review]
Krupa Shah, Kosha Sheth, Dhairya Shah, Hitesh Shah
Peer Reviewers Invited
PUBLISHED 01 Aug 2025
https://doi.org/10.12688/f1000research.163018.1
Case Report metrics
Case Report: Colonic metastasis as the initial manifestation of Pancoast-Tobias syndrome: A rare case report
[version 1; peer review: 1 approved with reservations]
Asma Mensi, Krifa Nesrine, Emna Bel Hadj Mabrouk, Linda Bel Hadj, Rim Makhlouf, Shema Ayadi, Leila Mouelhi, Radhouane Debbeche
Peer Reviewers Tamsin Lannagan
PUBLISHED 09 Apr 2025
https://doi.org/10.12688/f1000research.162741.1
Case Report metrics
Case Report: Atypical Localization of a Pulmonary Hydatid Cyst
[version 1; peer review: 2 approved with reservations]
Bochra Karaborni, Hela Kamoun, Hadhemi Rejeb, Imene Bouassida, Hanene Smadhi, Leila Fekih
Peer Reviewers Alin Mihetiu; Ali Bilal Ulas
PUBLISHED 12 Mar 2025
https://doi.org/10.12688/f1000research.146468.1
Case Report metrics
Case Report: Holistic dental care for a child with Hunter syndrome: Addressing dental ramifications, overcoming challenges, and enhancing quality of life
[version 1; peer review: 2 approved]
Swagata Saha, Krishna Priya, Kavita Rai, Manju R, Krithika Shetty, Amitha M Hegde, Ananya Rao K, Dhvani Abhijit Tanna, Mohanaram S, Shreya S
Peer Reviewers Vivek Padmanabhan; Raghavendra Shetty
PUBLISHED 15 Apr 2024
https://doi.org/10.12688/f1000research.128372.1
Case Report metrics AWAITING PEER REVIEW
Case Report: Acquired hemophilia A following COVID-19 vaccine
[version 1; peer review: awaiting peer review]
Emna Bouslama, Hajer Ben Ismail, Kmira Zahra, Nadia Sassi, Yossra Dhaha, Amina Bouatay, Yosra Ben Boussef, Nesrine Ben Sayed, Haifa Regaieg, Abderrahim Khelif
Peer Reviewers Invited
PUBLISHED 12 Jan 2024
https://doi.org/10.12688/f1000research.139881.1
Case Report metrics
Case Report: Thanatophoric dysplasia
[version 1; peer review: 2 approved with reservations, 1 not approved]
Aakriti Poudel, Manish Upreti, Asmita Pantha
Peer Reviewers Ozge Ozdemir; Lamidi Audu; Charu Sharma
PUBLISHED 14 Dec 2023
https://doi.org/10.12688/f1000research.131500.1
Case Report metrics
Case Report: Toxic epidermal necrolysis: a rare pediatric case report from Nepal
[version 1; peer review: 2 approved with reservations]
Ambika Dawadi, Anita Lamichhane, Manish Upreti, Natasha Dhakal
Peer Reviewers Alan Pang; Tomoya Watanabe
PUBLISHED 28 Nov 2023
https://doi.org/10.12688/f1000research.139038.1
Case Report metrics
Case Report: Challenges in the etiology of left ventricular aneurysm
[version 1; peer review: 1 approved, 2 approved with reservations]
El Mehdi Channan, Georgiana Pintea Bentea, Brahim Berdaoui, Nasroolla Damry, Marielle Morissens, José Castro Rodriguez
Peer Reviewers Anna Chaloupka; Akinori Higaki; Daniela Corina MIRICA
PUBLISHED 20 Nov 2023
https://doi.org/10.12688/f1000research.141196.1
Case Report metrics
Case Report: Paroxysmal autonomic instability with dystonia syndrome: a rare complication of tuberculous meningitis
[version 1; peer review: 1 approved, 2 approved with reservations]
Lowrence Precious Dichoso, Gerald Pagaling, Roland Dominic G. Jamora, Veeda Michelle M. Anlacan
Peer Reviewers Venkat Ramesh; Shailendra Katwal; Nor Osman Sidow
PUBLISHED 25 Oct 2023
https://doi.org/10.12688/f1000research.19140.1
Software Tool Article metrics
Iron Hack - A symposium/hackathon focused on porphyrias, Friedreich’s ataxia, and other rare iron-related diseases
[version 1; peer review: 2 approved]
Gloria C. Ferreira, Jenna Oberstaller, Renée Fonseca, Thomas E. Keller, Swamy Rakesh Adapa, Justin Gibbons, Chengqi Wang, Xiaoming Liu, Chang Li, Minh Pham, Guy W. Dayhoff II, Linh M. Duong, Luis Tañón Reyes, Luciano Enrique Laratelli, Douglas Franz, Segun Fatumo, ATM Golam Bari, Audrey Freischel, Lindsey Fiedler, Omkar Dokur, Krishna Sharma, Deborah Cragun, Ben Busby, Rays H.Y. Jiang
Peer Reviewers Karl E Anderson; Robert J. Desnick
  • Funders
  • American Cancer Society
  • WHC
  • U.S. National Library of Medicine
  • University of South Florida
  • National Science Foundation
PUBLISHED 19 Jul 2019
https://doi.org/10.12688/f1000research.9472.2
Case Report metrics
Revised
Case Report: Whole exome sequencing identifies a novel frameshift insertion c.1325dupT (p.F442fsX2) in the tyrosine kinase domain of BTK gene in a young Indian individual with X-linked agammaglobulinemia
[version 2; peer review: 2 approved]
Amit Rawat, Shamsudheen Karuthedath Vellarikkal, Ankit Verma, Rijith Jayarajan, Anju Gupta, Surjit Singh, Anita Chopra, Rajive Kumar, Vinod Scaria, Sridhar Sivasubbu
Peer Reviewers Mohamed Badawy Hassan Tawfik Abdel-Naser; Saharuddin Bin Mohamad
LATEST VERSION PUBLISHED 31 Aug 2017
https://doi.org/10.12688/f1000research.11553.1
Correspondence metrics
From disease modelling to personalised therapy in patients with CEP290 mutations
[version 1; peer review: 2 approved]
Elisa Molinari, Shalabh Srivastava, John A. Sayer, Simon A. Ramsbottom
Peer Reviewers Patricia D. Wilson; Ruxandra Bachmann-Gagescu
  • Funders
  • Kidney Research UK
  • Medical Research Council
  • Kids Kidney Research
  • Newcastle upon Tyne Hospitals NHS Charity
PUBLISHED 12 May 2017
https://doi.org/10.12688/f1000research.10588.1
Case Report metrics
Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability
[version 1; peer review: 2 approved]
Erika Banuelos, Keri Ramsey, Newell Belnap, Malavika Krishnan, Chris D. Balak, Szabolcs Szelinger, Ashley L. Siniard, Megan Russell, Ryan Richholt, Matt De Both, Ignazio Piras, Marcus Naymik, Ana M. Claasen, Sampathkumar Rangasamy, Matthew J. Huentelman, David W. Craig, Philippe M. Campeau, Vinodh Narayanan, Isabelle Schrauwen
Peer Reviewers Deepa S. Rajan; Brian Appavu
  • Funder
  • The TGen Foundation
PUBLISHED 24 Apr 2017
https://doi.org/10.12688/f1000research.11316.1
Case Report metrics
Case Report: Making a diagnosis of familial renal disease – clinical and patient perspectives
[version 1; peer review: 4 approved]
Zahra Iqbal, John A. Sayer
Peer Reviewers Moin A. Saleem; Aoife M. Waters; Larissa Kerecuk; Beata S. Lipska-Ziętkiewicz
  • Funder
  • Northern Counties Kidney Research Fund
PUBLISHED 12 Apr 2017
https://doi.org/10.12688/f1000research.9036.1
Case Report metrics
Case Report: Efficacy of propranolol in delaying the growth of hemangioblastomas in a Von Hippel Lindau patient
[version 1; peer review: 2 approved with reservations]
Ana-Belen Perona-Moratalla, Gemma Serrano-Heras, Tomas Segura
Peer Reviewers Marie Louise Mølgaard Binderup and Lone Sunde; Eric Jonasch
PUBLISHED 13 Mar 2017
https://doi.org/10.12688/f1000research.9323.2
Research Article metrics
Revised
Collecting clinical data in primary ciliary dyskinesia- challenges and opportunities
[version 2; peer review: 2 approved]
Israel Amirav, Mary Roduta Roberts, Huda Mussaffi, Avigdor Mandelberg, Yehudah Roth, Revital Abitbul, Anthony Luder, Hannah Blau, Soliman Alkrinawi, Micha Aviram, Marta Ben-Ami, Moshe Rotschild, Lea Bentur, David Shoseyov, Malena Cohen-Cymberknoh, Eitan Kerem, Avraham Avital, Chaim Springer, Avigdor Hevroni, Husein Dabbah, Arnon Elizur, Elie Picard, Shmuel Goldberg, Joseph Rivlin, Galit Livnat, Moran Lavie, Nael Alias, Ruth Soferman, Heike Olbrich, Johanna Raidt, Julia Wallmeier, Claudius Werner, Niki T. Loges, Heymut Omran
Peer Reviewers Bruce Rubin; Zorica Živković
LATEST VERSION PUBLISHED 03 Oct 2016
https://doi.org/10.12688/f1000research.8156.1
Research Article metrics
Reduced neuronal size and mTOR pathway activity in the Mecp2 A140V Rett syndrome mouse model
[version 1; peer review: 4 approved]
Sampathkumar Rangasamy, Shannon Olfers, Brittany Gerald, Alex Hilbert, Sean Svejda, Vinodh Narayanan
Peer Reviewers Lucas Pozzo-Miller and Wei Li; Rajiv R. Ratan; Subbiah Pugazhenthi; Ganeshwaran H. Mochida
PUBLISHED 08 Sep 2016
https://doi.org/10.12688/f1000research.8600.3
Opinion Article metrics
Revised
“The molecule’s the thing:” the promise of molecular modeling and dynamic simulations in aiding the prioritization and interpretation of genomic testing results
[version 3; peer review: 2 approved, 1 approved with reservations]
Gavin R. Oliver, Michael T. Zimmermann, Eric W. Klee, Raul A. Urrutia
Peer Reviewers Saverio Alberti; Attila Bérces; Anita Grigoriadis
LATEST VERSION PUBLISHED 25 Jul 2016
1-20 of 36 ARTICLES
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