Journal of Pediatric Genetics

Ausgabe 01 · März 2012

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Ausgabe
Foreword
001
Slavotinek, Anne M.: A much needed new journal in the field of Pediatric Genetics

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Editorial
003
Levin-Iaina, Nomy; Dinour, Dganit: Renal disease with OCRL1 mutations: Dent-2 or Lowe syndrome?

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Review Article
007
Greenberg, Cheryl; McClellan, Kelly; Avard, Denise: Beyond dissemination: A knowledge translation model to drive change in pediatric genetics

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013
Wiwanitkit, Viroj: Prenatal testing: A method for early detection of genetic disorders among fetuses in Thailand, a data between the year 1990 and 2010

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015
Böckenhauer, Detlef; Bökenkamp, Arend; Nuutinen, Matti; Unwin, Robert; van't Hoff, William; Sirimanna, Tony; Vrljicak, Kristina; Ludwig, Michael: Novel OCRL mutations in patients with Dent-2 disease

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025
Kobayashi, Ryosuke; Matsune, Kensuke; Ohashi, Hirofumi: Fused teeth, macrodontia and increased caries are characteristic features of neurofibromatosis type 1 patients with NF1 gene microdeletion Fused teeth, macrodontia and increased caries are characteristic features of neurofibromatosis type 1 patients with NF1 gene microdeletion

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033
Shimojima, Keiko; Yamamoto, Toshiyuki: Growth profiles of 34 patients with Wolf-Hirschhorn syndrome

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039
Chen, Xing; Tang, Jian; Liu, Yang; Luan, Meng; An, Kun; Zhang, Yan; Li, Fuhui; Zhou, Peng; Liu, Wenmin; Liu, Jintong; Chen, Gang: Lack of association between NCAM1 and early onset schizophrenia in a family based study in Shandong peninsula of China

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047
Samanich, Joy; Montagna, Cristina; Morrow, Bernice E.; Babcock, Melanie: Interstitial duplication of 22q13.2 in a girl with short stature, impaired speech and language, and dysmorphism

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055
Smigiel, Robert; Misiak, Blazej; Golebiowski, Waldemar; Lebioda, Arleta; Dorobisz, Urszula; Zielinska, Marzena; Patkowski, Dariusz: Esophageal atresia and anal atresia in a newborn with heterotaxia combined with other congenital defects

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059
Kodandapani, Sreelakshmi; Shetty, Jyothi; Kumar, Pratap; Girisha, Katta M.: Umbilical cyst due to patent urachus in a fetus with complete urorectal septum malformation sequence

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063
Bouhjar, Inesse Ben Abdallah; Gmidène, Abir; Soyah, Najla; Hanene, Hannachi; Mougou, Soumaya; Elghezal, Hatem; Saad, Ali: Trisomy and tetrasomy 15q11-q13 diagnosed by molecular cytogenetic analysis in two patients with mental retardation

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