Results 1 to 10 of about 618 (98)

Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants. [PDF]

Mov Disord
Abstract Background DYT‐VPS16, an early‐onset isolated dystonia caused by variants in the VPS16 gene, has been reported in fewer than 70 patients. Methods We explored the clinical and genotypic spectrum of DYT‐VPS16 by investigating early‐onset dystonia patients with VPS16 variants discovered in our large Biodatabank and through gene‐matching ...
Westenberger A, Verdura E, Radefeldt M, Sanderson LE, Tripolszki K, Marcé-Grau A, Cazurro-Gutiérrez A, Nikoncuk A, Herzog R, Al-Ali R, Ferreira M, Almeida LS, Silveira TRD, Khan S, Maia RD, Klivényi P, Salamon A, Baltaci V, Subasioglu A, Prada-Arismendy J, Čuturilo G, Loens S, Tadic V, Maystadt I, Karadurmus D, Leube B, De Winter J, Monticelli A, De Waele L, Baets J, Vinkšel M, Maver A, Tschopp L, Ziegler G, Sanguinetti A, Lohmann K, Barakat TS, Bauer P, Perez-Dueñas B, Bertoli-Avella AM.   +39 more
europepmc   +2 more sources

[Healthy volunteers and clinical research in the South: a community-based approach]. [PDF]

Med Trop Sante Int
Chippaux JP.
europepmc   +1 more source

[Oto-rhino-laryngological and cervico-maxillofacial pathologies among hospitalized older patients: epidemiological, diagnostical and therapeutical aspects in Lomé, Togo]. [PDF]

Med Trop Sante Int, 2023
Foma W, Agoda PP, Koulete D, Amana E, Ananidjin G, Boko SUR, Pegbessou EP, Amana B, Boko E.   +8 more
europepmc   +1 more source

[Laveran, the military doctor]. [PDF]

Med Trop Sante Int, 2023
Migliani R.
europepmc   +1 more source

[Tetanus: a serious toxic infection still present in southern Tunisia]. [PDF]

Med Trop Sante Int
Bradai S, Bouaziz S, Hadded A, Baccouch N, Bahloul M, Hamida C.   +5 more
europepmc   +1 more source

PERIGENOMED-CLINICS 1-the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in France. [PDF]

BMJ Open
Level C, Thauvin-Robinet C, Binquet C, Duffourd Y, Davoine E, Chevarin M, Tran-Mau-Them F, Lemaitre M, Bruel AL, Safraou H, Salvi D, Tisserant E, Lecommandeur E, Charreton A, Hassine A, de Tayrac M, Redon R, Barc J, Schmitt S, Piard J, Kuentz P, Cormier C, Malbos M, Racine C, Chabrol B, Cheillan D, Tardy V, Colin E, Bris C, Mercier S, Nizon M, Gaudillat L, Loizeau V, Lenelle C, Mottet N, Simon E, Arnoux JB, Carpentier M, Renaud C, Ziegler A, Lejeune C, Jannot AS, Asensio ML, Rollier P, Odent S, Bezieau S, Pasquier L, Huet F, Faivre L.   +48 more
europepmc   +1 more source

Éruptions papuleuses à zone atrophique centrale dite porcelainée et perforations intestinales à répétition chez une femme de 43 ans. [PDF]

CMAJ
Wiens J, Dunham M, Walker S, Au S.
europepmc   +1 more source

[2nd Mayotte en Santé conference - Disadvantaged territories - September 18-20, 2023 - Mayotte]. [PDF]

Med Trop Sante Int
Mouhoudhoire M, Abdelmoumen K, Pleignet É, Öngün-Rombaldi M, Gaubert M, Houmadi R, Oberlis M, Vignier N, Castan B, Epelboin L.   +9 more
europepmc   +1 more source

[High prevalence of <i>Cryptosporidium</i> infection in colorectal cancer cases from Tunisia]. [PDF]

Med Trop Sante Int
Jelassi R, Chelbi H, Certad G, Benamro Uz-Vanne Ste S, Farah F, Bouratbine A, Aoun K.   +6 more
europepmc   +1 more source