1. Proposed guidelines for papers describing DNA polymorphism-disease associations

   • David N. Cooper
   • Robert L. Nussbaum
   • Michael Krawczak

   Editorial 13 February 2002 Pages: 207 - 208

2. Origin and affinities of indigenous Siberian populations as revealed by HLA class II gene frequencies

   • Tatiana S. Uinuk-ool
   • Naoko Takezaki
   • Jan Klein

   Original Investigation 02 February 2002 Pages: 209 - 226

3. Characterisation of interstitial duplications and triplications of chromosome 15q11–q13

   • Siân E. Roberts
   • Nicholas R. Dennis
   • Simon N. Thomas

   Original Investigation 02 February 2002 Pages: 227 - 234

4. Identification and characterization of a novel liver-specific enhancer of the human phenylalanine hydroxylase gene

   • Kuan-Ju Chen
   • Hung-Kun Chao
   • Tsung-Sheng Su

   Original Investigation 05 February 2002 Pages: 235 - 243

5. A candidate gene for congenital bilateral isolated ptosis identified by molecular analysis of a de novo balanced translocation

   • Tristan F. McMullan
   • John A. Crolla
   • David O. Robinson

   Original Investigation 01 February 2002 Pages: 244 - 250

6. A case of segmental paternal isodisomy of chromosome 14

   • Karen J. Coveler
   • Sam P. Yang
   • Lisa G. Shaffer

   Original Investigation 26 February 2002 Pages: 251 - 256

7. Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutations

   • Yolanda Martín
   • Ana Valero
   • Concepción Hernández-Chico

   Original Investigation 08 February 2002 Pages: 257 - 263

8. CIA30 complex I assembly factor: a candidate for human complex I deficiency?

   • Rolf Janssen
   • Jan Smeitink
   • Lambert van den Heuvel

   Original Investigation 01 February 2002 Pages: 264 - 270

9. Variability of X chromosome inactivation: effect on levels of TIMP1 RNA and role of DNA methylation

   • Catherine L. Anderson
   • Carolyn J. Brown

   Original Investigation 01 February 2002 Pages: 271 - 278

10. Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts

    • P. Leegwater
    • P. Boor
    • M. van der Knaap

    Original Investigation 08 February 2002 Pages: 279 - 283

11. Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East

    • Hashem Shahin
    • Tom Walsh
    • Moien Kanaan

    Original Investigation 08 February 2002 Pages: 284 - 289

12. Handbook of statistical genetics:

    • Christine Fischer

    Book Review 15 February 2002 Pages: 290 - 290

13. Wiley encyclopedia of molecular medicine

    • David N. Cooper

    Book Review 06 February 2002 Pages: 291 - 292

14. Management of genetic syndromes

    • M. Porteous

    Book Review 13 February 2002 Pages: 293 - 293

15. Human Gene Mutations

    Announcement 17 February 2014 Pages: 294 - 295