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15/02/2024
Thirty-year of genetic counselling education in Europe: a growing professional area
Paneque, M, O'Shea, R, Narravula, A, Siglen, E, Ciuca, A, Abuli, A, Serra-Juhé, C. Thirty-year of genetic counselling education in Europe: a growing professional area. EUROPEAN JOURNAL OF HUMAN GENETICS. 2024; DOI:10.1038/s41431-024-01552-8. PMID:38355960. IF:4.600(Q1/2D).
01/01/2024
Mutations in CPLANE2 are responsible of a new form of orofaciodigital syndrome
Palafoll, IV, Pérez, DV, Bruel, AL, Steichen, E, Codina, M, Martínez-Gil, N, Cusco, I, Thauvin-Robinet, C, Tizzano, E. Mutations in CPLANE2 are responsible of a new form of orofaciodigital syndrome. EUROPEAN JOURNAL OF HUMAN GENETICS. 2024; 32DOI:. PMID:. IF:4.600(Q1/2D).
01/01/2024
Five new patients with TAOK related disorders: relevance of TAOK2 gene in neurodevelopment?
Lasa-Aranzasti, A, Palafoll, IV, Gonzalez, AMC, Fernandez, P, Cuscó, I, Trujillano, L, Campos, B, Codina, M, Leno, J, García-Arumi, E, Tizzano, E. Five new patients with TAOK related disorders: relevance of TAOK2 gene in neurodevelopment?. EUROPEAN JOURNAL OF HUMAN GENETICS. 2024; 32DOI:. PMID:. IF:4.600(Q1/2D).
01/06/2023
Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples
Abuli, A, Costa-Roger, M, Codina-Sola, M, Valenzuela, I, Leno-Colorado, J, Rovira-Moreno, E, Cueto-Gonzalez, A, Fernandez-Alvarez, P, Garcia-Arumi, E, Cusco, I, Tizzano, EF. Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples. JOURNAL OF MEDICAL GENETICS. 2023; 60(6)DOI:10.1136/jmg-2022-108607. PMID:36600615. IF:3.600(Q2/3D).