Genetics & Metabolism

Research Output

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Comment/debate
1997

Erratum: Prenatal diagnosis of a de novo trisomy 6q22.2→6qter and monosomy 1pter→1p36.3. Case report with a 2-year follow-up and a brief review of other prenatal cases of partial trisomy 6q (Clinical Genetics (1997) 51 (115-117))

Kulharya, A. S., Carlin, M. E., Stettler, W. A., Huslig, M., Kukolich, M. K. & Garcia-Heras, J., Jan 1 1997, In : Clinical Genetics. 52, 4, 1 p.

Research output: Contribution to journalComment/debate

1999
2 Scopus citations
2001

Good practice eliminates dilemmas

Scheuerle, A., Mar 2001, In : American Journal of Bioethics. 1, 3, 1 p.

Research output: Contribution to journalComment/debate

1 Scopus citations
2020

Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract (Genetics in Medicine, (2019), 21, 12, (2755-2764), 10.1038/s41436-019-0576-0)

Blackburn, A. T. M., Bekheirnia, N., Uma, V. C., Corkins, M. E., Xu, Y., Rosenfeld, J. A., Bainbridge, M. N., Yang, Y., Liu, P., Madan-Khetarpal, S., Delgado, M. R., Hudgins, L., Krantz, I., Rodriguez-Buritica, D., Wheeler, P. G., Al-Gazali, L., Shamsi, A. M. S. M. A., Gomez-Ospina, N., Chao, H. T., Mirzaa, G. M. & 9 others, Scheuerle, A. E., Kukolich, M. K., Scaglia, F., Eng, C., Willsey, H. R., Braun, M. C., Lamb, D. J., Miller, R. K. & Bekheirnia, M. R., Apr 1 2020, In : Genetics in Medicine. 22, 4, 1 p.

Research output: Contribution to journalComment/debate

Open Access