Dinour, Dganit:


Renal disease with

OCRL1

mutations: Dent-2 or Lowe syndrome?

McClellan, Kelly;

Avard, Denise:


Beyond dissemination: A knowledge translation model to drive change in pediatric genetics

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

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

Yamamoto, Toshiyuki:


Growth profiles of 34 patients with Wolf-Hirschhorn syndrome

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

Montagna, Cristina;

Morrow, Bernice E.;

Babcock, Melanie:


Interstitial duplication of 22q13.2 in a girl with short stature, impaired speech and language, and dysmorphism

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

Shetty, Jyothi;

Kumar, Pratap;

Girisha, Katta M.:


Umbilical cyst due to patent urachus in a fetus with complete urorectal septum malformation sequence

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