Journal of Pediatric Genetics 2012_04-_209-252.html Ocak 27, 2025’' te gönderildi osman tarafından Journal of Pediatric Genetics 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 Full Text PDF (85 kb) 217 Akrami, Seyed Mohammad: Genetics of consanguineous marriage: Impact and importance of counseling Full Text PDF (50 kb) 221 Deepak, Rani R.; Ashavaid, Tester F.: Screening of the CFTR gene in Indian patients Full Text PDF (75 kb) 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 Full Text PDF (74 kb) 235 Crespo, Frank; Pinar, Halit; Kostadinov, Stefan: Cases of limb-body wall complex: Early amnion rupture, vascular disruption, or abnormal splitting of the embryo? Full Text PDF (251 kb) 239 Balkan, Mahmut; Fidanboy, Mehmet; Özbek, M. Nuri; Alp, M. Nail; Budak, Turgay: Different chromosome Y abnormalities in a case with short stature Full Text PDF (486 kb) 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 Full Text PDF (739 kb) 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 Full Text PDF (1610 kb) osman 2013_04-_173-207.html 2005_03-_123-196.html