Nonsense mutation in exon 4 of human complement C9 gene is the major cause of Japanese complement C9 deficiency R. KiraKenji IharaToshiro Hara Original investigation 15 February 2014 Pages: 605 - 610
Prenatal diagnosis of ornithine transcarbamylase deficiency by using a single nucleated erythrocyte from maternal blood A. WatanabeAkihiko SekizawaIchiro Matsuda Original investigation 15 February 2014 Pages: 611 - 615
Assessment of autosome and gonosome disomy in human sperm nuclei by chromosome painting N. RivesSophie MazurierBertrand Macé Original investigation 15 February 2014 Pages: 616 - 623
The familial adenomatous polyposis region exhibits many different haplotypes Alessandro StellaNicoletta RestaG. Guanti Original investigation 15 February 2014 Pages: 624 - 628
The Cretan type of non-deletional hereditary persistence of fetal hemoglobin [Aγ–158C→T] results from two independent gene conversion events G. P. PatrinosPanagoula KolliaManoussos N. Papadakis Original investigation 15 February 2014 Pages: 629 - 634
Identification of a novel splicing mutation and 1-bp deletion in the 17α-hydroxylase gene of Japanese patients with 17α-hydroxylase deficiency Hideki YamaguchiM. NakazatoShigeru Matsukura Original investigation 15 February 2014 Pages: 635 - 639
Synchrony in telomere length of the human fetus Kjell YoungrenElisabeth JeanclosA. Aviv Original investigation 15 February 2014 Pages: 640 - 643
A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population L. P. W. J. van den HeuvelBernadette LuitenR. A. Wevers Original investigation 15 February 2014 Pages: 644 - 646
Microsatellite profiles reveal an unexpected genetic relationship between Asian populations Burkhard RolfBasil HorstJürgen Horst Original investigation 15 February 2014 Pages: 647 - 652
The mobile nature of acrocentric elements illustrated by three unusual chromosome variants K. S. ReddyV. Sulcova Original investigation 15 February 2014 Pages: 653 - 662
Preimplantation genetic analysis of translocations: case-specific probes for interphase cell analysis S. MunnéJingly FungHeinz Ulrich G. Weier Original investigation 15 February 2014 Pages: 663 - 674
Five novel missense mutations of the Lewis gene (FUT3) in African (Xhosa) and Caucasian populations in South Africa H. PangYuhua LiuH. Kimura Original investigation 15 February 2014 Pages: 675 - 680
Exclusion of a p53 germline mutation in a classic Li-Fraumeni syndrome family Susan C. EvansBetsy MimsGuillermina Lozano Original investigation 15 February 2014 Pages: 681 - 686
Multiple testing in fetal gender determination from maternal blood by polymerase chain reaction Fiorenza LagonaM. SmidLaura Cremonesi Original investigation 15 February 2014 Pages: 687 - 690
Ala397Asp mutation of myosin VIIA gene segregating in a Spanish family with type-Ib Usher syndrome C. EspinósJ. M. MillánC. Nájera Original investigation 15 February 2014 Pages: 691 - 694
Distribution of CCR5-delta 32 gene deletion across the Russian part of Eurasia N. S. YudinV. Vinogradov SergeyMikhail I. Voevoda Original investigation 15 February 2014 Pages: 695 - 698
The human photoreceptor rim protein gene (ABCR): genomic structure and primer set information for mutation analysis Sassan M. AzarianChristine F. MegarityG. H. Travis Rapid communication 15 February 2014 Pages: 699 - 705
Genetic engineering with PCR: R. M. Horton and R. C. Tait (Editors) Jochen Reiss Book review 15 February 2014 Pages: 706 - 706
Human cytogenetic cancer markers: Sandra R. Wolman and Stewart Sell (Editors) Peter Thompson Book review 15 February 2014 Pages: 707 - 707
Absence of association between a mitochondrial DNA mutation at nucleotide position 3243 and schizophrenia in Japanese M. OdawaraTadao ArinamiKamejiro Yamashita Letter to the editors 15 February 2014 Pages: 708 - 709
