Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia Tomotsugu YasudaNaoki YamaguchiTakeyori Saheki Original Investigations Pages: 537 - 545
Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE) Anne RomstadH. Serap KalkanoğluFlemming Güttler Original Investigations Pages: 546 - 553
Exclusion of Htra2-β1, an up-regulator of full-length SMN2 transcript, as a modifying gene for spinal muscular atrophy Claudia HelmkenBrunhilde Wirth Original Investigations Pages: 554 - 558
Age and origin of the FCMD 3′-untranslated-region retrotransposal insertion mutation causing Fukuyama-type congenital muscular dystrophy in the Japanese population Roberto ColomboAngelo A. BignaminiTatsushi Toda Original Investigations Pages: 559 - 567
Molecular defects in the α-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients Alessandra TessitoreGuglielmo R. D. VillaniPaola Di Natale Original Investigations Pages: 568 - 576
Chromosomal localization, genomic characterization, and mapping to the Noonan syndrome critical region of the human Deltex (DTX1) gene Laura LeeJennifer Dowhanick-MorrissetteIan D. Krantz Original Investigations Pages: 577 - 581
Y chromosome haplotypes reveal prehistorical migrations to the Himalayas Bing SuChunjie XiaoLi Jin Original Investigations Pages: 582 - 590
Association of the TNF-α-308 (G→A) polymorphism with self-reported history of childhood asthma Elizabeth C. WinchesterIona Y. MillwoodAnna M. Kessling Original Investigations Pages: 591 - 596
Genomic structure and fine mapping of the two human filamin gene paralogues FLNB and FLNC and comparative analysis of the filamin gene family Christina ChakarovaManfred S. WehnertDieter O. Fürst Original Investigations Pages: 597 - 611
Association between CYP1A2 polymorphism and susceptibility to porphyria cutanea tarda L. ChristiansenA. BygumN. E. Petersen Original Investigations Pages: 612 - 614
Multilocus genetic analysis of single interphase cells by spectral imaging J. FungH. -U. G. WeierR. A. Pedersen Original Investigations Pages: 615 - 622
Do MSH6 mutations contribute to double primary cancers of the colorectum and endometrium? George S. CharamesAnna L. MillarBharati Bapat Original Investigations Pages: 623 - 629
High-resolution Y chromosome haplotypes of Israeli and Palestinian Arabs reveal geographic substructure and substantial overlap with haplotypes of Jews Almut NebelDvora FilonMark G. Thomas Original Investigations Pages: 630 - 641
The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia Gaëlle PennarunCatherine ChapelinBénédicte Duriez Original Investigations Pages: 642 - 649
Mutation analysis of subjects with 46, XX sex reversal and 46, XY gonadal dysgenesis does not support the involvement of SOX3 in testis determination Han N. LimGary D. BerkovitzJ. Ross Hawkins Original Investigations Pages: 650 - 652