Search Results - "Jakiel, P."

Next- generation sequencing is an effective method for diagnosing patients with different forms of monogenic diabetes by Zmysłowska, A., Jakiel, P., Gadzalska, K., Majos, A., Płoszaj, T., Ben-Skowronek, I., Deja, G., Glowinska-Olszewska, B., Jarosz-Chobot, P., Klonowska, B., Kowalska, I., Mlynarski, W., Mysliwiec, M., Nazim, J., Noczynska, A., Robak-Kontna, K., Skala-Zamorowska, E., Skowronska, B., Szadkowska, A., Szypowska, A., Walczak, M., Borowiec, M.

“…Monogenic diabetes (MD) represents 5–7% of antibody-negative diabetes cases and is a heterogeneous group of disorders. We used targeted next-generation…”
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Novel potentially pathogenic variants detected in genes causing intellectual disability and epilepsy in Polish families by Skoczylas, S., Jakiel, P., Płoszaj, T., Gadzalska, K., Borowiec, M., Pastorczak, A., Moczulska, H., Malarska, M., Eckersdorf-Mastalerz, A., Budzyńska, E., Zmysłowska, A.

“…Background Intellectual disability (ID) affects 1–3% of the world population. The number of genes whose dysfunctions cause intellectual disability is…”
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