Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype

অনুযায়ী Valstar, Marlies J., Bruggenwirth, Hennie T., Olmer, Renske, Wevers, Ron A., Verheijen, Frans W., Poorthuis, Ben J., Halley, Dicky J., Wijburg, Frits A.
প্রকাশিত 2010

Combined cardiological and neurological abnormalities due to filamin A gene mutation

অনুযায়ী de Wit, Marie Claire Y., de Coo, Irenaeus F. M., Lequin, Maarten H., Halley, Dicky J. J., Roos-Hesselink, Jolien W., Mancini, Grazia M. S.
প্রকাশিত 2010

Multiplex ligation-depending probe amplification is not suitable for detection of low-grade mosaicism

অনুযায়ী van Veghel-Plandsoen, Monique M, Wouters, Cokkie H, Kromosoeto, Joan N R, den Ridder-Klünnen, Mariska C, Halley, Dicky J J, van den Ouweland, Ans M W
প্রকাশিত 2011

Chloride conductance and genetic background modulate the cystic fibrosis phenotype of ΔF508 homozygous twins and siblings

অনুযায়ী Bronsveld, Inez, Mekus, Frauke, Bijman, Jan, Ballmann, Manfred, de Jonge, Hugo R., Laabs, Ulrike, Halley, Dicky J., Ellemunter, Helmut, Mastella, Gianni, Thomas, Stephen, Veeze, Henk J., Tümmler, Burkhard
প্রকাশিত 2001

Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase

অনুযায়ী Brands, Marion M, Hoogeveen-Westerveld, Marianne, Kroos, Marian A, Nobel, Willemieke, Ruijter, George J, Özkan, Lale, Plug, Iris, Grinberg, Daniel, Vilageliu, Lluïsa, Halley, Dicky J, Ploeg, Ans T van der, Reuser, Arnold J
প্রকাশিত 2013

General overgrowth in the fragile X syndrome: variability in the phenotypic expression of the FMR1 gene mutation

অনুযায়ী Vries, Bert B A de, Robinson, Hazel, Stolte-Dijkstra, Irene, Gi, Cecil V Tjon Pian, Dijkstra, Piet F, Doorn, Jaap van, Halley, Dicky J J, Oostra, Ben A, Turner, Gillian, Niermeijer, Martinus F
প্রকাশিত 1995

Phosphatidylinositol 3-kinase/Akt pathway regulates tuberous sclerosis tumor suppressor complex by phosphorylation of tuberin.

অনুযায়ী Dan, Han C., Sun, Mei, Yang, Lin, Feldman, Richard I., Sui, Xue-Mei, Ou, Chien Chen, Nellist, Mark, Yeung, Raymond S., Halley, Dicky J. J., Nicosia, Santo V., Pledger, Warren J., Cheng, Jin Q.
প্রকাশিত J Biol Chem (2016)

Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients

অনুযায়ী van den Ouweland, Ans M W, Elfferich, Peter, Zonnenberg, Bernard A, Arts, Willem F, Kleefstra, Tjitske, Nellist, Mark D, Millan, Jose M, Withagen-Hermans, Caroline, Maat-Kievit, Anneke J A, Halley, Dicky J J
প্রকাশিত 2011

COL4A2 mutation associated with familial porencephaly and small-vessel disease

অনুযায়ী Verbeek, Elly, Meuwissen, Marije EC, Verheijen, Frans W, Govaert, Paul P, Licht, Daniel J, Kuo, Debbie S, Poulton, Cathryn J, Schot, Rachel, Lequin, Maarten H, Dudink, Jeroen, Halley, Dicky J, de Coo, René IF, den Hollander, Jan C, Oegema, Renske, Gould, Douglas B, Mancini, Grazia MS
প্রকাশিত 2012

Refinement of the Multiple Exostoses Locus (EXT2) to a 3-cM Interval on Chromosome 11

অনুযায়ী Wuyts, Wim, Ramlakhan, Sarvan, Van Hul, Wim, Hecht, Jacqueline T., van den Ouweland, Ans M. W., Raskind, Wendy H., Hofstede, Floris C., Reyniers, Edwin, Wells, Dan E., de Vries, Bert, Conrad, Ernest U., Hill, April, Zalatayev, Dmitry, Weissenbach, Jean, Wagner, Michael J., Bakker, Egbert, Halley, Dicky J. J., Willems, Patrick J.
প্রকাশিত 1995

Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays

অনুযায়ী Labrijn-Marks, Ineke, Somers-Bolman, Galhana M., In ’t Groen, Stijn L. M., Hoogeveen-Westerveld, Marianne, Kroos, Marian A., Ala-Mello, Sirpa, Amaral, Olga, Miranda, Clara sa, Mavridou, Irene, Michelakakis, Helen, Naess, Karin, Verheijen, Frans W., Hoefsloot, Lies H., Dijkhuizen, Trijnie, Benjamins, Marloes, van den Hout, Hannerieke J. M., van der Ploeg, Ans T., Pijnappel, W. W. M. Pim, Saris, Jasper J., Halley, Dicky J.
প্রকাশিত Eur J Hum Genet (2019)

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects

অনুযায়ী Vrijenhoek, Terry, Kraaijeveld, Ken, Elferink, Martin, de Ligt, Joep, Kranendonk, Elcke, Santen, Gijs, Nijman, Isaac J, Butler, Derek, Claes, Godelieve, Costessi, Adalberto, Dorlijn, Wim, van Eyndhoven, Winfried, Halley, Dicky J J, van den Hout, Mirjam C G N, van Hove, Steven, Johansson, Lennart F, Jongbloed, Jan D H, Kamps, Rick, Kockx, Christel E M, de Koning, Bart, Kriek, Marjolein, Lekanne dit Deprez, Ronald, Lunstroo, Hans, Mannens, Marcel, Mook, Olaf R, Nelen, Marcel, Ploem, Corrette, Rijnen, Marco, Saris, Jasper J, Sinke, Richard, Sistermans, Erik, van Slegtenhorst, Marjon, Sleutels, Frank, van der Stoep, Nienke, van Tienhoven, Marianne, Vermaat, Martijn, Vogel, Maartje, Waisfisz, Quinten, Marjan Weiss, Janneke, van den Wijngaard, Arthur, van Workum, Wilbert, Ijntema, Helger, van der Zwaag, Bert, van IJcken, Wilfred FJ, den Dunnen, Johan, Veltman, Joris A, Hennekam, Raoul, Cuppen, Edwin
প্রকাশিত Eur J Hum Genet (2015)