Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Carolyn Shalhoub"'
Autor:
Tristan Celse, Angèle Tingaud-Sequeira, Klaus Dieterich, Geraldine Siegfried, Cédric Lecaignec, Laurence Bouneau, Madeleine Fannemel, Gaelle Salaun, Fanny Laffargue, Guillaume Martinez, Véronique Satre, Gaelle Vieville, Marie Bidart, Cecilia Soussi Zander, Ann-Charlotte Turesson, Miranda Splitt, Dorothee Reboul, Jean Chiesa, Philippe Khau Van Kien, Manon Godin, Nicolas Gruchy, Himanshu Goel, Elizabeth Palmer, Kalliope Demetriou, Carolyn Shalhoub, Caroline Rooryck, Charles Coutton
Publikováno v:
Journal of medical genetics.
BackgroundOculo-auriculo-vertebral spectrum (OAVS) is the second most common cause of head and neck malformations in children after orofacial clefts. OAVS is clinically heterogeneous and characterised by a broad range of clinical features including e
Autor:
Mary-Anne Young, Ivan Macciocca, Alison McEwen, Rachel Williams, Hayley Salvemini, Carolyn Shalhoub, Amy Pearn, Michael Milward, Jennifer Berkman, Clara Gaff, Kate E. Riley, Cass Hoskins
Publikováno v:
Journal of genetic counselingREFERENCES. 30(2)
As a result of the ongoing global expansion of genetic counseling, the need to formalize a system of professional regulation for genetic counselors was identified in Australasia. In June 2017, under the auspices of the Human Genetics Society of Austr
Autor:
Veronica Wiley, Scott Nightingale, Carolyn Shalhoub, Bridget Wilcken, Rosie Junek, Viola Whitaker, Michael J. Coffey, Natalie Gentin, Kevin J. Gaskin, Chee Y. Ooi, Jodi Hilton
Publikováno v:
The Journal of Pediatrics. 181:137-145.e1
To evaluate children with cystic fibrosis (CF) who had a late diagnosis of CF (LD-CF) despite newborn screening (NBS) and compare their clinical outcomes with children diagnosed after a positive NBS (NBS-CF).A retrospective review of patients with LD
Publikováno v:
Journal of Paediatrics and Child Health. 40:401-403
We report a case of direct interstitial duplication of chromosome 4 from 4q28.1 to 4q35 associated with bilateral choanal atresia. The child also had dysmorphic features including a broad nasal bridge, telecanthus, downward slanting palpebral fissure