Authors:
Fryns, JP
Borghgraef, M
Brown, TW
Chelly, J
Fisch, GS
Hamel, B
Hanauer, A
Lacombe, D
Luo, L
MacPherson, JN
Mandel, JL
Moraine, C
Mulley, J
Nelson, D
Oostra, B
Partington, M
Ramakers, GJA
Ropers, HH
Rousseau, F
Schwartz, C
Steinbach, P
Stoll, C
Tranebjaerg, L
Turner, G
Van Bokhoven, H
Vianna-Morgante, A
Villard, L
Warren, ST
Citation: Jp. Fryns et al., 9th international workshop on fragile X syndrome and X-linked mental retardation, AM J MED G, 94(5), 2000, pp. 345-360
Authors:
Steinlein, OK
Stoodt, J
Mulley, J
Berkovic, S
Scheffer, IE
Brodtkorb, E
Citation: Ok. Steinlein et al., Independent occurrence of the CHRNA4 Ser248Phe mutation in a Norwegian family with nocturnal frontal lobe epilepsy, EPILEPSIA, 41(5), 2000, pp. 529-535
Authors:
McDermott, MF
Aksentijevich, I
Galon, J
McDermott, EM
Ogunkolade, BW
Centola, M
Mansfield, E
Gadina, M
Karenko, L
Pettersson, T
McCarthy, J
Frucht, DM
Aringer, M
Torosyan, Y
Teppo, AM
Wilson, M
Karaarslan, HM
Wan, Y
Todd, I
Wood, G
Schlimgen, R
Kumarajeewa, TR
Cooper, SM
Vella, JP
Amos, CI
Mulley, J
Quane, KA
Molloy, MG
Ranki, A
Powell, RJ
Hitman, GA
O'Shea, JJ
Kastner, DL
Citation: Mf. Mcdermott et al., Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes, CELL, 97(1), 1999, pp. 133-144