Achalasia: will genetic studies provide insights? Henning R. GockelJohannes SchumacherMarkus M. Nöthen Review Article 11 August 2010 Pages: 353 - 364
A homozygous mutation in LTBP2 causes isolated microspherophakia Arun KumarMaheswara R. DuvvariSusan H. Blanton Original Investigation 09 July 2010 Pages: 365 - 371
Breakpoint determination of 15 large deletions in Peutz–Jeghers subjects Nicoletta RestaRoberto GiordaRoberto Ciccone Original Investigation 11 July 2010 Pages: 373 - 382
Allele-specific recognition of the 3′ splice site of INS intron 1 Jana KralovicovaIgor Vorechovsky Original Investigation Open access 14 July 2010 Pages: 383 - 400
Evidence of gene–environment interaction for the IRF6 gene and maternal multivitamin supplementation in controlling the risk of cleft lip with/without cleft palate Tao WuKung Yee LiangTerri H. Beaty Original Investigation 23 July 2010 Pages: 401 - 410
Multiple enhancers located in a 1-Mb region upstream of POU3F4 promote expression during inner ear development and may be required for hearing Silvia NaranjoKrysta VoesenekJosé Luis Gómez-Skarmeta Original Investigation Open access 29 July 2010 Pages: 411 - 419
A biopsy sample reduction approach to identify significant alterations of the testicular transcriptome in the presence of Y-chromosomal microdeletions that are independent of germ cell composition Heike Cappallo-ObermannKathrein von KopylowAndrej-Nikolai Spiess Original Investigation Open access 29 July 2010 Pages: 421 - 431
An approach based on a genome-wide association study reveals candidate loci for narcolepsy Mihoko ShimadaTaku MiyagawaKatsushi Tokunaga Original Investigation 31 July 2010 Pages: 433 - 441
Susceptibility to chronic thromboembolic pulmonary hypertension may be conferred by miR-759 via its targeted interaction with polymorphic fibrinogen alpha gene Zhiyong ChenToshiaki NakajimaAkinori Kimura Original Investigation 31 July 2010 Pages: 443 - 452
Age at onset in Huntington’s disease is modified by the autophagy pathway: implication of the V471A polymorphism in Atg7 Silke MetzgerMeiju SaukkoHuu Phuc Nguyen Original Investigation 10 August 2010 Pages: 453 - 459
Identification of an autosomal recessive stuttering locus on chromosome 3q13.2–3q13.33 Muhammad Hashim RazaSheikh RiazuddinDennis Drayna Short Report 13 August 2010 Pages: 461 - 463
No association between the SNPs (rs3749446 and rs1402000) in the PARL gene and LHON in Chinese patients with m.11778G>A A-Mei ZhangXiaoyun JiaYong-Gang Yao Short Report 14 August 2010 Pages: 465 - 468
S.J.L. Knight: Monographs in Human Genetics, Vol. 18, Genetics of Mental Retardation Nicole Philip Book Review 06 July 2010 Pages: 469 - 470
Walther W., Stein U.S. (eds): Gene therapy of cancer: methods and protocols, 2nd ed Han Hsi WongYaohe Wang Book Review 30 July 2010 Pages: 471 - 472
