المؤلفون: Wijngaard, R, Demidov, G, O’Gorman, L, Corominas-Galbany, J, Yaldiz, B, Steyaert, W, de Boer, E, Vissers, LELM, Kamsteeg, EJ, Pfundt, R, Swinkels, H, den Ouden, A, te Paske, IBAW, de Voer, RM, Faivre, L, Denommé-Pichon, AS, Duffourd, Y, Vitobello, A, Chevarin, M, Straub, V, Töpf, A, van der Kooi, AJ, Magrinelli, F, Rocca, C, Hanna, MG, Vandrovcova, J, Ossowski, S, Laurie, S, Gilissen, C

المصدر: European Journal of Human Genetics (2023)

مصطلحات موضوعية: Solve-RD consortium

وصف الملف: application/pdf

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10182476/1/Hanna_Mobile%20element%20insertions%20in%20rare%20diseases-%20a%20comparative%20benchmark%20and%20reanalysis%20of%2060,000%20exome%20samples_correction_VoR.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10182476Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10182476/1/Hanna_Mobile%20element%20insertions%20in%20rare%20diseases-%20a%20comparative%20benchmark%20and%20reanalysis%20of%2060,000%20exome%20samples_correction_VoR.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10182476Test/

المؤلفون: Wijngaard, R, Demidov, G, O’Gorman, L, Corominas-Galbany, J, Yaldiz, B, Steyaert, W, de Boer, E, Vissers, LELM, Kamsteeg, EJ, Pfundt, R, Swinkels, H, den Ouden, A, te Paske, IBAW, de Voer, RM, Faivre, L, Denommé-Pichon, AS, Duffourd, Y, Vitobello, A, Chevarin, M, Straub, V, Töpf, A, van der Kooi, AJ, Magrinelli, F, Rocca, C, Hanna, MG, Vandrovcova, J, Ossowski, S, Laurie, S, Gilissen, C

المصدر: European Journal of Human Genetics (2023) (In press).

مصطلحات موضوعية: Solve-RD consortium

وصف الملف: application/pdf

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10180214/1/s41431-023-01478-7.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10180214Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10180214/1/s41431-023-01478-7.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10180214Test/

المؤلفون: Töpf, A, Pyle, A, Griffin, H, Matalonga, L, Schon, K, Cohen, E, Cuesta, I, Danis, D, Denommé-Pichon, AS, Duffourd, Y, Gilissen, C, Johari, M, Laurie, S, Li, S, Nelson, I, Paramonov, I, Peters, S, Prasanth, S, Robinson, P, Sablauskas, K, Savarese, M, Steyaert, W, van der Velde, JK, Vitobello, A, Baets, J, Beijer, D, Bonne, G, Cossins, J, Evangelista, T, Ferlini, A, Hackman, P, Hanna, MG, Houlden, H, Lau, J, Lochmüller, H, Macken, WL, Musacchia, F, Nascimento, A, Natera-de Benito, D, Nigro, V, Piluso, G, Pini, V, Pitceathly, RDS, Polavarapu, K, Cruz, PMR, Sarkozy, A, Selvatici, R, Thompson, R, Torella, A, Udd, B, Van de Vondel, L, Vandrovcova, J, Zaharieva, I, Sickmann, A, Schara–Schmidt, U, Hentschel, A, Chinnery, PF, Kölbel, H, Roos, A, Horvath, R

المصدر: European Journal of Human Genetics , 29 (9) pp. 1348-1353. (2021)

مصطلحات موضوعية: Cerebellum, Developmental Disabilities, Exome, Genetic Testing, Humans, Infant, Male, Muscular Atrophy, Spinal, Nervous System Malformations, Proteome, Transcription Factors

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10171386/1/Houlden_Exome%20reanalysis%20and%20proteomic%20profiling%20identified%20TRIP4%20as%20a%20novel%20cause%20of%20cerebellar%20hypoplasia%20and%20spinal%20muscular%20atrophy_VoR.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10171386Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10171386/1/Houlden_Exome%20reanalysis%20and%20proteomic%20profiling%20identified%20TRIP4%20as%20a%20novel%20cause%20of%20cerebellar%20hypoplasia%20and%20spinal%20muscular%20atrophy_VoR.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10171386Test/

المؤلفون: Pantic, B, Ives, D, Mennuni, M, Perez-Rodriguez, D, Fernandez-Pelayo, U, Lopez de Arbina, A, Muñoz-Oreja, M, Villar-Fernandez, M, Dang, T-MJ, Vergani, L, Johnston, IG, Pitceathly, RDS, McFarland, R, Hanna, MG, Taylor, RW, Holt, IJ, Spinazzola, A

المصدر: Nature Communications , 12 (1) , Article 6997. (2021)

مصطلحات موضوعية: DNA metabolism, Energy metabolism, Molecular medicine

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10139799/1/Pantic_et_al-2021-Nature_Communications.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10139799Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10139799/1/Pantic_et_al-2021-Nature_Communications.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10139799Test/