Validation period: 12/30/2024, 5:32:24 PM - 12/31/2024, 5:32:24 PM
BMJ Journals logo
Home/Browse by collection/Open access
Email alerts

Open access

Showing results 61 - 70 of 100

Sorted by most recent

TitleAuthorDate
Genotype–phenotype associations in Alström syndrome: a systematic review and meta-analysis
Brais Bea-Mascato, Diana Valverde

15 June 2023

Recessive MECR pathogenic variants cause an LHON-like optic neuropathy
Claudio Fiorini, Andrea Degiorgi, Maria Lucia Cascavilla, Concetta Valentina Tropeano, Chiara La Morgia, Marco Battista, Danara Ormanbekova, Flavia Palombo, Michele Carbonelli, Francesco Bandello, Valerio Carelli, Alessandra Maresca, Piero Barboni, Enrico Baruffini, Leonardo Caporali

21 September 2023

Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature
Francesca Peluso, Stefano G Caraffi, Gianluca Contrò, Lara Valeri, Manuela Napoli, Giorgia Carboni, Alka Seth, Roberta Zuntini, Emanuele Coccia, Guja Astrea, Anne-Marie Bisgaard, Ivan Ivanovski, Silvia Maitz, Elise Brischoux-Boucher, Melissa T CarterSee the full list of authors

16 August 2023

Prev12345678910Next
CONTENT
  • Latest content
  • Current issue
  • Archive
  • Browse by collection
  • Top cited articles
  • Most read articles
  • Responses
rss-icontwitter-iconfacebook-iconsocial-blogs-icon
bmj-footer-logo
Website Terms & ConditionsPrivacy & CookiesContact BMJCookie settingsOnline ISSN: 1468-6244 Print ISSN: 0022-2593Copyright © 2024 BMJ Publishing Group Ltd. All rights reserved.