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Genomics|June 10, 1995
A high-resolution interval map of the q21 region of the human X chromosomeC Philippe, C Arnould, F Sloan, et al.American Journal of Medical Genetics|July 9, 1999
X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3L E Siderius, B C Hamel, H van Bokhoven, et al.American Journal of Medical Genetics|July 31, 2001
Meier-Gorlin syndrome: report of eight additional cases and reviewE M Bongers, J M Opitz, A Fryer, et al.Clinical Genetics|March 19, 2010
A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrumJ Van Reeuwijk, M J W Olderode-Berends, C Van den Elzen, et al.Neurology|April 26, 2001
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain diseaseB Cormand, H Pihko, M Bayés, et al.Nature Genetics|November 4, 2000
Dominant isolated renal magnesium loss is caused by misrouting of the Na(+),K(+)-ATPase gamma-subunitI C Meij, J B Koenderink, H van Bokhoven, et al.Human Molecular Genetics|June 1, 1997
Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germlineJ A van den Hurk, W Hendriks, D J van de Pol, et al.Human Mutation|January 1, 1997
Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) geneJ A van den Hurk, M Schwartz, H van Bokhoven, et al.Nature Genetics|October 4, 2000
Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardationK Kutsche, H Yntema, A Brandt, et al.Molecular Syndromology|July 22, 2010
Periventricular heterotopia in common microdeletion syndromesM van Kogelenberg, S Ghedia, G McGillivray, et al.Pageof 7