Nancy Choucair

Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations

Marie‐Hélène Gannagé‐Yared, Jürgen Klammt, Éliane Chouery et al. · European Journal of Endocrinology · 2012 · 57 citations

Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability

Nancy Choucair, Cécile Mignon‐Ravix, Pierre Cacciagli et al. · Molecular Cytogenetics · 2015 · 49 citations · Full text

Intragenic rearrangements in X‐linked intellectual deficiency: Results of a‐CGH in a series of 54 patients and identification of <i>TRPC5</i> and <i>KLHL15</i> as potential XLID genes

Cécile Mignon‐Ravix, Pierre Cacciagli, Nancy Choucair et al. · American Journal of Medical Genetics Part A · 2014 · 30 citations

Intellectual Deficiency, High Resolution, Mendelian Disorder +14

Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?

André Mégarbané, Rashid Al‐Ali, Nancy Choucair et al. · BMC Medical Genetics · 2016 · 29 citations · Full text

10q26.1 Microdeletion: Redefining the critical regions for microcephaly and genital anomalies

Nancy Choucair, Joelle Abou Ghoch, Ali Fawaz et al. · American Journal of Medical Genetics Part A · 2015 · 22 citations