Research output per year
Research output per year
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Dive into the research topics where João F. C. Gonçalves is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Correction to: Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia (Human Genetics, (2020), 10.1007/s00439-020-02236-1)
Salas-Huetos, A., Tüttelmann, F., Wyrwoll, M. J., Kliesch, S., Lopes, A. M., Gonçalves, J., Boyden, S. E., Wöste, M., Hotaling, J. M., Aston, K. I., Jenkins, T. G., O’Bryan, M. K., McLachlan, R., Schlegel, P. N., Eisenberg, M. L., Sandlow, J. I., Smith, J. F., Kamal, P., Ober, C., Sigman, M. & 20 others, , Jan 2021, In: Human Genetics. 140, 1, p. 229-229 1 p.Research output: Contribution to journal › Comment/debate › peer-review
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Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility
Wyrwoll, M. J., Temel, Ş. G., Nagirnaja, L., Oud, M. S., Lopes, A. M., van der Heijden, G. W., Heald, J. S., Rotte, N., Wistuba, J., Wöste, M., Ledig, S., Krenz, H., Smits, R. M., Carvalho, F., Gonçalves, J., Fietz, D., Türkgenç, B., Ergören, M. C., Çetinkaya, M., Başar, M. & 14 others, , 6 Aug 2020, In: American journal of human genetics. 107, 2, p. 342-351 10 p.Research output: Contribution to journal › Article › peer-review
5 Citations (Scopus) -
Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia
Salas-Huetos, A., Tuettelmann, F., Wyrwoll, M. J., Kliesch, S., Lopes, A. M., Concalves, J., Boyden, S. E., Woeste, M., Hotaling, J. M., Nagirnaja, L., Conrad, D. F., Carrell, D. T. & Aston, K. I., 19 Nov 2020, In: Human Genetics.Research output: Contribution to journal › Article › peer-review
3 Citations (Scopus) -
Hereditary breast and ovarian cancer: two cases of double heterozigosity for pathogenic variants in the BRCA1 or BRCA2 and ATM genes
Theisen, P., Rodrigues, P., Silva, C., Carpinteiro, D., Ribeiro, L., Carreiro, H., Gervasio, H., Leal da Silva, J., Vieira, L. & Goncalves, J., Dec 2020, In: European Journal of Human Genetics. 28, SUPPL 1, p. 494-495Research output: Contribution to journal › Meeting Abstract › peer-review
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Intronic variation of the SOHLH2 gene confers risk to male reproductive impairment
Cerván-Martín, M., Suazo-Sánchez, M. I., Rivera-Egea, R., Garrido, N., Luján, S., Romeu, G., Santos-Ribeiro, S., Castilla, J. A., Gonzalvo, M. C., Clavero, A., Vicente, F. J., Maldonado, V., Burgos, M., Barrionuevo, F. J., Jiménez, R., Sánchez-Curbelo, J., López-Rodrigo, O., Peraza, M. F., Pereira-Caetano, I., Marques, P. I. & 21 others, , Aug 2020, In: Fertility And Sterility. 114, 2, p. 398-406Research output: Contribution to journal › Article › peer-review
2 Citations (Scopus)