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Author/Creator Hofstra, R

1. Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree. Issue 5 (1st May 2001)

Authors:
Wagner, A; Hendriks, Y; Meijers-Heijboer, E J; de Leeuw, W J F; Morreau, H; Hofstra, R; Tops, C; Bik, E; Bröcker-Vriends, A H J T; van der Meer, C; Lindhout, D; Vasen, H F A; Breuning, M H; Cornelisse, C J; van Krimpen, C; Niermeijer, M F; Zwinderman, A H; Wijnen, J; Fodde, R
Journal:
Journal of medical genetics
Issue:
Volume 38:Issue 5(2001)
Page Start:
318
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Geographical and ethnic variation of the 677C>T allele of 5, 10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide. Issue 8 (14th August 2003)

Authors:
Wilcken, B; Bamforth, F; Li, Z; Zhu, H; Ritvanen, A; Redlund, M; Stoll, C; Alembik, Y; Dott, B; Czeizel, A E; Gelman-Kohan, Z; Scarano, G; Bianca, S; Ettore, G; Tenconi, R; Bellato, S; Scala, I; Mutchinick, O M; López, M A; de Walle, H
Journal:
Journal of medical genetics
Issue:
Volume 40:Issue 8(2003)
Page Start:
619
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome. Issue 5 (30th April 2004)

Authors:
Matera, I; Bachetti, T; Puppo, F; Di Duca, M; Morandi, F; Casiraghi, G M; Cilio, M R; Hennekam, R; Hofstra, R; Schöber, J G; Ravazzolo, R; Ottonello, G; Ceccherini, I
Journal:
Journal of medical genetics
Issue:
Volume 41:Issue 5(2004)
Page Start:
373
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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