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JOURNAL of PEDIATRIC
GENETICS
Official Journal of the
World
Society of Child Science, Turkiye
Journal of Pediatric Genetics is affiliated with
Hungarian Society for Human
Genetics
J Pediatr Genet 2011: Volume 1: Number 1
EDITORIALS
A. M.
Slavotinek
A new
journal in the field of Pediatric Genetics
N.
Levin-Iaina and D. Dinour
Renal
disease with OCRL1 mutations: Dent-2 or Lowe syndrome?
REVIEW
ARTICLES
C.
Greenberg, K. McClellan and D. Avard
Beyond
dissemination: A knowledge translation model to drive change
in pediatric genetics
V.
Wiwanitkit
Prenatal
testing: A method to early detection genetic disorders among
fetuses in Thailand, a data between the year 1990 and 2010
ORIGINAL
ARTICLES
D.
Böckenhauer, A. Bökenkamp, M. Nuutinen R. Unwin, W. van’t
Hoff, T. Sirimanna, K. Vrljicak and M. Ludwig
Novel OCRL
mutations in patients with Dent-2 disease
R.
Kobayashi, K. Matsune and H. Ohashi
Fused
teeth, macrodontia and increased caries are characteristic
features of neurofibromatosis type 1 patients with NF1 gene
microdeletion
K.
Shimojima and T. Yamamoto
Growth
profiles of 34 patients with Wolf-Hirschhorn syndrome
X.
Chen, J. Tang, L. Yang, M. Luan,
K. An, Y. Zhang, F. Li, P. Zhou, W. Liu, J.
Liu
and G. Chen
Lack of
association between NCAM1 and early onset schizophrenia in a
family based study in Shandong peninsula of China
CASE
REPORTS
J.
Samanich, C. Montagna, B. Morrow and M. Babcock
Interstitial duplication of 22q13.2 in a girl with short
stature, impaired speech and language, and dysmorphism
R. Smigiel, B. Misiak,
W. Golebiowski, A. Lebioda, U. Dorobisz, M. Zielinska
and D. Patkowski
Esophageal
atresia and anal atresia in a newborn with heterotaxia
combined with other congenital defects
S.
Kodandapani, K.M. Girisha, J. Shetty and P. Kumar
Umbilical cyst due to patent urachus in a fetus with
complete urorectal septum malformation sequence |
