Search Results - "Leoyklang, P"

A mutation of the p63 gene in non-syndromic cleft lip by Leoyklang, P, Siriwan, P, Shotelersuk, V

“…Mutations in the p63 gene (TP63) underlie several monogenic malformation syndromes manifesting cleft lip with or without cleft palate (CL/P). We investigated…”
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Three novel mutations in the PORCN gene underlying focal dermal hypoplasia by Leoyklang, P, Suphapeetiporn, K, Wananukul, S, Shotelersuk, V

“…Focal dermal hypoplasia (FDH) is an X‐linked dominant disorder characterized by patchy dermal hypoplasia with digital, ocular and dental abnormalities. Very…”
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GNE myopathy biomarkers: Essential for diagnosis and response to therapy by Malicdan, M, Leoyklang, P, Ciccone, C, Carrillo, N, Huizing, M, Gahl, W

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G.P.52 by Malicdan, M.C, Mian, L, Leoyklang, P, Celeste, F, Despres, D, Zerfas, P, Carrillo-Carrasco, N, Gahl, W.A

“…GNE myopathy is an adult-onset distal myopathy caused by mutations in the GNE gene, which codes for a bifunctional enzyme important in sialic acid…”
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P.276 - GNE myopathy biomarkers: Essential for diagnosis and response to therapy by Malicdan, M., Leoyklang, P., Ciccone, C., Carrillo, N., Huizing, M., Gahl, W.

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Quantitation of sialylation status by lectin immunofluorescence in muscle biopsies of patients with GNE myopathy: assessing response to therapy by Huizing, M., Leoyklang, P., Class, B., Ciccone, C., Glowacki, A., Jodarski, C., Perrault, J., Gahl, W., Carrillo, N., Malicdan, M.

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P.177 - Quantitation of sialylation status by lectin immunofluorescence in muscle biopsies of patients with GNE myopathy: assessing response to therapy by Huizing, M., Leoyklang, P., Class, B., Ciccone, C., Glowacki, A., Jodarski, C., Perrault, J., Gahl, W., Carrillo, N., Malicdan, M.

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G.P.52: Cardiac impairment in GNE myopathy by Malicdan, M.C., Mian, L., Leoyklang, P., Celeste, F., Despres, D., Zerfas, P., Carrillo-Carrasco, N., Gahl, W.A.

“…GNE myopathy is an adult-onset distal myopathy caused by mutations in the GNE gene, which codes for a bifunctional enzyme important in sialic acid…”
Get full text

A mutation of the p63 gene in non-syndromic cleft lip by Leoyklang, P, Siriwan, P, Shotelersuk, V

“…Mutations in the p63 gene (TP63) underlie several monogenic malformation syndromes manifesting cleft lip with or without cleft palate (CL/P). We investigated…”
Get full text