Molecular Genetics and Genomic Medicine

Displaying 1 - 6 of 6
Sen, K., Izem, R., Long, Y., Jiang, J., Konczal, L. L., McCarter, R. J., Gropman, A. L., & Bedoyan, J. K. (2024). Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database. Molecular Genetics & Genomic Medicine, 12(4). Portico. https://doi.org/10.1002/mgg3.2443
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Columbia Affiliation
Kolesnikova, M., Lima de Carvalho, J. R., Parmann, R., Kim, A. H., Mahajan, V. B., Tsang, S. H., & Sparrow, J. R. (2022). Chorioretinal atrophy following voretigene neparvovec despite the presence of fundus autofluorescence. Molecular Genetics & Genomic Medicine, 10(11). Portico. https://doi.org/10.1002/mgg3.2038
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Yalcouyé, A., Traoré, O., Diarra, S., Schrauwen, I., Esoh, K., Kadlubowska, M. K., Bharadwaj, T., Adadey, S. M., Kéita, M., Guinto, C. O., Leal, S. M., Landouré, G., & Wonkam, A. (2022). A monoallelic variant in EYA1 is associated with Branchio‐Otic syndrome in a Malian family. Molecular Genetics & Genomic Medicine, 10(7). Portico. https://doi.org/10.1002/mgg3.1995
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Liang, L. W., Kalia, I., Latif, F., Waase, M. P., Shimada, Y. J., Sayer, G., Reilly, M. P., & Uriel, N. (2022). The use of telemedicine in cardiogenetics clinical practice during the COVID‐19 pandemic. Molecular Genetics & Genomic Medicine, 10(6). Portico. https://doi.org/10.1002/mgg3.1946
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Bharadwaj, T., Schrauwen, I., Acharya, A., Nouel‐Saied, L. M., Väisänen, M., Kraatari, M., Rahikkala, E., Jarvela, I., Kotimäki, J., & Leal, S. M. (2022). Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant. Molecular Genetics & Genomic Medicine, 10(3). Portico. https://doi.org/10.1002/mgg3.1866
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