From the ER to the golgi: insights from the study of combined factors V and VIII deficiency.

Por Nichols, W C, Ginsburg, D
Publicado em 1999

Severe von Willebrand disease due to a defect at the level of von Willebrand factor mRNA expression: detection by exonic PCR-restriction fragment length polymorphism analysis.

Por Nichols, W C, Lyons, S E, Harrison, J S, Cody, R L, Ginsburg, D
Publicado em 1991

Familial t(8;15)(p23.3;q22.3): report of two cases with dup(15) (q22.3----qter).

Por Goldstein, D J, Ward, R E, Nichols, W C, Palmer, C G
Publicado em 1987

Verification of Self-Report of Zygosity Determined via DNA Testing in a Subset of the NAS-NRC Twin Registry 40 Years Later

Por Reed, T., Plassman, B.L., Tanner, C.M., Dick, D. M., Rinehart, S.A., Nichols, W.C.
Publicado em 2005

Linkage of combined factors V and VIII deficiency to chromosome 18q by homozygosity mapping.

Por Nichols, W C, Seligsohn, U, Zivelin, A, Terry, V H, Arnold, N D, Siemieniak, D R, Kaufman, R J, Ginsburg, D
Publicado em 1997

Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations

Por Pankratz, N, Kissell, D K., Pauciulo, M W., Halter, C A., Rudolph, A, Pfeiffer, R F., Marder, K S., Foroud, T, Nichols, W C.
Publicado em 2009

The molecular defect in type IIB von Willebrand disease. Identification of four potential missense mutations within the putative GpIb binding domain.

Por Cooney, K A, Nichols, W C, Bruck, M E, Bahou, W F, Shapiro, A D, Bowie, E J, Gralnick, H R, Ginsburg, D
Publicado em 1991

A point mutation in transthyretin increases affinity for thyroxine and produces euthyroid hyperthyroxinemia.

Por Moses, A C, Rosen, H N, Moller, D E, Tsuzaki, S, Haddow, J E, Lawlor, J, Liepnieks, J J, Nichols, W C, Benson, M D
Publicado em 1990

Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset

Por Nichols, W C., Pankratz, N, Marek, D K., Pauciulo, M W., Elsaesser, V E., Halter, C A., Rudolph, A, Wojcieszek, J, Pfeiffer, R F., Foroud, T
Publicado em 2009

Variation in GIGYF2 is not associated with Parkinson disease

Por Nichols, W C., Kissell, D K., Pankratz, N, Pauciulo, M W., Elsaesser, V E., Clark, K A., Halter, C A., Rudolph, A, Wojcieszek, J, Pfeiffer, R F., Foroud, T
Publicado em 2009

Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease

Por Haugarvoll, K., Rademakers, R., Kachergus, J.M., Nuytemans, K., Ross, O.A., Gibson, J.M., Tan, E.-K., Gaig, C., Tolosa, E., Goldwurm, S., Guidi, M., Riboldazzi, G., Brown, L., Walter, U., Benecke, R., Berg, D., Gasser, T., Theuns, J., Pals, P., Cras, P., De Deyn, P. Paul, Engelborghs, S., Pickut, B., Uitti, R.J., Foroud, T., Nichols, W.C., Hagenah, J., Klein, C., Samii, A., Zabetian, C.P., Bonifati, V., Van Broeckhoven, C., Farrer, M.J., Wszolek, Z.K.
Publicado em 2008