Elionora Peña Lozano
Postdoc
Hansen Group
Blegdamsvej 3B, Mærsk Tårnet, 8. sal
2200 København N.
1 - 1 ud af 1Pr. side: 10
- 2022
- Udgivet
Clinical and genetic characterization of patients segregating variants in KPTN, MINPP1, NGLY1, AP4B1, and SON underlying neurodevelopmental disorders: Genetic and phenotypic expansion
Ullah, A., Shah, A. A., Alluqmani, M., Haider, N., Aman, H., Alfadhli, F., Almatrafi, A. M., Albalawi, A. M., Krishin, J., Ullah Khan, F., Anjam, B. A., Abdullah, Peña Lozano, Elionora, Samad, A., Ahmad, W., Hansen, Torben, Xia, K. & Basit, S., 2022, I: International Journal of Developmental Neuroscience. 82, 8, s. 788-804Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
ID: 284679300
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Identification of genetic variants associated with a wide spectrum of phenotypes clinically diagnosed as Sanfilippo and Morquio syndromes using whole genome sequencing
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
Udgivet