DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Issue 04 · Volume 01 · December 2012 DOI: 10.1055/s-005-29728

Review Article

  • 209
    Ludwig, Michael; Reutter, Heiko:

    Genome-wide array data and next generation sequencing unravel the etiology of urogenital malformations

  • 217
    Akrami, Seyed Mohammad:

    Genetics of consanguineous marriage: Impact and importance of counseling

  • 221
    Deepak, Rani R.; Ashavaid, Tester F.:

    Screening of the CFTR gene in Indian patients

  • 229
    De Luca, Maria; Chandler-Laney, Paula C.; Wiener, Howard; Fernandez, Jose R.:

    Common variants in the LAMA5 gene associate with fasting plasma glucose and serum triglyceride levels in a cohort of pre- and early pubertal children

  • 235
    Crespo, Frank; Pinar, Halit; Kostadinov, Stefan:

    Cases of limb-body wall complex: Early amnion rupture, vascular disruption, or abnormal splitting of the embryo?

  • 239
    Balkan, Mahmut; Fidanboy, Mehmet; Özbek, M. Nuri; Alp, M. Nail; Budak, Turgay:

    Different chromosome Y abnormalities in a case with short stature

  • 243
    Balkan, Mahmut; Fidanboy, Mehmet; İsi, Hilmi; Akbaş, Halit; Kalkanli, Sevgi; Alp, M. Nail; Budak, Turgay:

    A case of complete tetraploidy in amniocentesis with normal karyotype in subsequent cordocentesis

  • 247
    Balasubramanian, Meena; Smith, Kath; Williams, Steve; Griffiths, Paul D.; Parker, Michael J.; Mordekar, Santosh R.:

    Tigroid pattern of cerebral white matter involvement in chromosome 6p25 deletion syndrome with concomitant 5p15 duplication