De novo t(7;10)(q33;q23) translocation and closely juxtaposed microdeletion in a patient with macrocephaly and developmental delay Ying YueBaerbel GrossmannThomas Haaf Original Investigation 15 April 2005 Pages: 1 - 8
Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss Zhiyuan LiRonghua LiMin-Xin Guan Original Investigation 20 April 2005 Pages: 9 - 15
Functional promoter polymorphism in the TBX21 gene associated with aspirin-induced asthma Mitsuteru AkahoshiKazuhiko ObaraTaro Shirakawa Original Investigation 02 April 2005 Pages: 16 - 26
Association between the neuron-specific RNA-binding protein ELAVL4 and Parkinson disease Maher A. NoureddineXue-Jun QinYi-Ju Li Original Investigation 13 April 2005 Pages: 27 - 33
Genetic evidence in support of a shared Eurasian-North African dairying origin Sean MylesNourdine BouzekriRyk Ward Original Investigation 02 April 2005 Pages: 34 - 42
A homozygous nonsense mutation in SOX9 in the dominant disorder campomelic dysplasia: a case of mitotic gene conversion Ramona PopMichael V. ZaragozaGerd Scherer Original Investigation 02 April 2005 Pages: 43 - 53
AHSG gene variant is associated with leanness among Swedish men Catharina LavebrattSofia WahlqvistPeter Arner Original Investigation 02 April 2005 Pages: 54 - 60
Ancestral origins of the prion protein gene D178N mutation in the Basque Country Ana B. Rodríguez-MartínezChristian BarreauJuan J. Zarranz Original Investigation 02 April 2005 Pages: 61 - 69
Biochemical characterisation of the proteins encoded by the DiGeorge critical region 6 (DGCR6) genes Thorsten PfuhlMatthias DürrFriedrich A. Grässer Original Investigation 09 April 2005 Pages: 70 - 80
Variation in ITGB3 has sex-specific associations with plasma lipoprotein(a) and whole blood serotonin levels in a population-based sample Lauren A. WeissMark AbneyCarole Ober Original Investigation 15 April 2005 Pages: 81 - 87
Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population Dineke S. VerbeekBart P. C. van de WarrenburgRichard J. Sinke Original Investigation 20 April 2005 Pages: 88 - 91
Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA) Valentina GattaOronzo ScarciollaLiborio Stuppia Original Investigation 20 April 2005 Pages: 92 - 98
Dorian J. Pritchard, Bruce R. Korf (Eds): Medical Genetics at a Glance. Blackwell (2003) ISBN 0632063736, paperback, 120 pages, 48 illustrations, £15.95 Clare Taylor Book Review 15 April 2005 Pages: 99 - 100
