Cercar
01/01/2023
An European overview of genetic counselling supervision provision
Paneque M., Guimarães L., Bengoa J., Pasalodos S., Cordier C., Esteban I., Lemos C., Moldovan R., Serra-Juhé C.. An European overview of genetic counselling supervision provision. European Journal of Medical Genetics. 2023; 66(4)DOI:10.1016/j.ejmg.2023.104710. PMID:36731744. IF:1.600(Q4/8D).
01/01/2023
A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1
Rodríguez Cruz P.M., Ravenscroft G., Natera D., Carr A., Manzur A., Liu W.W., Vella N.R., Jericó I., Gonzalez-Quereda L., Gallano P., Montalto S.A., Davis M.R., Lamont P.J., Laing N.G., Bourque P., Nascimento A., Muntoni F., Polavarapu K., Lochmüller H., Palace J., Beeson D.. A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1. NEUROMUSCULAR DISORDERS. 2023; 33(2)DOI:10.1016/j.nmd.2022.12.011. PMID:36634413. IF:2.700(Q2/4D).
31/08/2022
On the necessity of recognizing so-called Core professional groups within the genetic healthcare in Europe (vol 34, pg 81, 2022)
Paneque, M, Juhe, CS, Melegh, B, Carreira, I, Moog, U, Liehr, T. On the necessity of recognizing so-called Core professional groups within the genetic healthcare in Europe (vol 34, pg 81, 2022). Medizinische Genetik. 2022; 34(2)DOI:10.1515/medgen-2022-2122. PMID:. IF:1.100(Q4/10D).
01/08/2022
A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome
Lucia-Campos, C, Valenzuela, I, Latorre-Pellicer, A, Ros-Pardo, D, Gil-Salvador, M, Arnedo, M, Puisac, B, Castells, N, Plaja, A, Tenes, A, Cusco, I, Trujillano, L, Ramos, FJ, Tizzano, EF, Gomez-Puertas, P, Pie, J. A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome. Genes. 2022; 13(8)DOI:10.3390/genes13081413. PMID:36011323. IF:3.500(Q2/4D).