Journal of Pediatric Genetics

Ausgabe 04 · Dezember 2012

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Ausgabe
Review Article
209
Ludwig, Michael; Reutter, Heiko: Genome-wide array data and next generation sequencing unravel the etiology of urogenital malformations

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217
Akrami, Seyed Mohammad: Genetics of consanguineous marriage: Impact and importance of counseling

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221
Deepak, Rani R.; Ashavaid, Tester F.: Screening of the CFTR gene in Indian patients

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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

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235
Crespo, Frank; Pinar, Halit; Kostadinov, Stefan: Cases of limb-body wall complex: Early amnion rupture, vascular disruption, or abnormal splitting of the embryo?

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239
Balkan, Mahmut; Fidanboy, Mehmet; Özbek, M. Nuri; Alp, M. Nail; Budak, Turgay: Different chromosome Y abnormalities in a case with short stature

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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

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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

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