Publications by authors named "Nancy Choucair"

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Homozygous microdeletion of the ERI1 and MFHAS1 genes in a patient with intellectual disability, limb abnormalities, and cardiac malformation.
Nancy Choucair, Mariam Rajab, André Mégarbané, Eliane Chouery

Am J Med Genet A· July 2017

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Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?
André Mégarbané, Rashid Al-Ali, Nancy Choucair, Monko Lek, Ena Wang

BMC Med Genet· June 2016

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10q26.1 Microdeletion: Redefining the critical regions for microcephaly and genital anomalies.
Nancy Choucair, Joelle Abou Ghoch, Ali Fawaz, André Mégarbané, Eliane Chouery

Am J Med Genet A· November 2015

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Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability.
Nancy Choucair, Cecile Mignon-Ravix, Pierre Cacciagli, Joelle Abou Ghoch, Ali Fawaz

Mol Cytogenet· June 2015

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Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients.
Nancy Choucair, Joelle Abou Ghoch, Sandra Corbani, Pierre Cacciagli, Cecile Mignon-Ravix

Mol Cytogenet· April 2015

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Intragenic rearrangements in X-linked intellectual deficiency: results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes.
Cécile Mignon-Ravix, Pierre Cacciagli, Nancy Choucair, Cornel Popovici, Chantal Missirian

Am J Med Genet A· August 2014

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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, Eliane Chouery, Sandra Corbani, Hala Mégarbané, Nancy Choucair

Eur J Endocrinol· January 2013

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