Search Results - "Agrawal, P.B"

Congenital myopathy caused by a novel missense mutation in the CFL2 gene by Ockeloen, C.W, Gilhuis, H.J, Pfundt, R, Kamsteeg, E.J, Agrawal, P.B, Beggs, A.H, Dara Hama-Amin, A, Diekstra, A, Knoers, N.V.A.M, Lammens, M, van Alfen, N

“…Abstract Nemaline myopathy and myofibrillar myopathy are heterogeneous myopathies that both comprise early-onset forms. We present two sisters from a…”
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P.9.5 A novel NEFL gene mutation is identified in a family diagnosed with Nemaline Myopathy by Agrawal, P.B, Joshi, M, Marinakis, N, Ciarlini, P.D, Schmitz-Abe, K, Markianos, K, De Girolami, U, Beggs, A.H

“…We describe a family of four members (a mother and her three sons) diagnosed with a skeletal muscle disease with biopsy findings consistent with nemaline…”
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C.O.6 Complete genetic analysis by whole exome sequencing of a cohort with centronuclear myopathy identifies titin gene mutations by Agrawal, P.B, Schmitz, K, DeChene, E.T, Ceyhan, Ö, Mercier, M, Viola, M, Markianos, K, Beggs, A.H

“…Abstract Centronuclear myopathies (CNM) are a group of rare heterogeneous congenital myopathies characterized by muscle weakness and low tone of varying onset,…”
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Purification and characterization of a new bioscouring pectate lyase from Bacillus pumilus BK2 by Klug-Santner, Barbara G., Schnitzhofer, Wolfgang, Vršanská, Maria, Weber, Jörg, Agrawal, Pramod B., Nierstrasz, Vincent A., Guebitz, Georg M.

“…An alkalophilic bacterium was isolated based on the potential of extra-cellular enzymes for bioscouring. The bacterium was identified as a new strain of…”
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NPHP3 mutations are associated with neonatal onset multiorgan polycystic disease in two siblings by Leeman, K T, Dobson, L, Towne, M, Dukhovny, D, Joshi, M, Stoler, J, Agrawal, P B

“…Two siblings with a severe multiorgan polycystic disease presenting in the neonatal period were identified. Their genetic testing identified compound…”
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Role of mechanical action in low-temperature cotton scouring with F. solani pisi cutinase and pectate lyase by Agrawal, P.B., Nierstrasz, V.A., Warmoeskerken, M.M.C.G.

“…The two principal reasons that can hinder industrial success of bioscouring are the inability to remove cotton waxes at low-temperature and that bioscouring is…”
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