Single‐center experience of N‐linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs von Bastaki, Fatma, Bizzari, Sami, Hamici, Sana, Nair, Pratibha, Mohamed, Madiha, Saif, Fatima, Malik, Ethar Mustafa, Al‐Ali, Mahmoud Taleb, Hamzeh, Abdul Rezzak

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CTGA: the database for genetic disorders in Arab populations von Tadmouri, Ghazi O, Ali, Mahmoud Taleb Al, Ali, Sarah Al-Haj, Khaja, Najib Al

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Developmental delay, intellectual disability, short stature, subglottic stenosis, hearing impairment, onychodysplasia of the index fingers, and distinctive facial features: A newly... von Mégarbané, André, Hana, Sayeeda, El‐Hayek, Stephany, Gambarini, Alicia, Al‐Ali, Mahmoud Taleb, Delague, Valérie

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Spectrum of genetic disorders and gene variants in the United Arab Emirates national population: insights from the CTGA database von Bizzari, Sami, Nair, Pratibha, Hana, Sayeeda, Deepthi, Asha, Al-Ali, Mahmoud Taleb, Al-Gazali, Lihadh, El-Hayek, Stephany

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Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic Disorders von Bizzari, Sami, Nair, Pratibha, Deepthi, Asha, Hana, Sayeeda, Al-Ali, Mahmoud Taleb, Megarbané, André, El-Hayek, Stephany

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Identification of a novel CTCF mutation responsible for syndromic intellectual disability - a case report von Bastaki, Fatma, Nair, Pratibha, Mohamed, Madiha, Malik, Ethar Mustafa, Helmi, Mustafa, Al-Ali, Mahmoud Taleb, Hamzeh, Abdul Rezzak

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Identification of a novel homozygous UNC80 variant in a child with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2) von Obeid, Tasneem, Hamzeh, Abdul Rezzak, Saif, Fatima, Nair, Pratibha, Mohamed, Madiha, Al-Ali, Mahmoud Taleb, Bastaki, Fatma

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A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort von Megarbane, Andre, Bizzari, Sami, Deepthi, Asha, Sabbagh, Sandra, Mansour, Hicham, Chouery, Eliane, Hmaimess, Ghassan, Jabbour, Rosette, Mehawej, Cybel, Alame, Saada, Hani, Abeer, Hasbini, Dana, Ghanem, Ismat, Koussa, Salam, Al-Ali, Mahmoud Taleb, Obeid, Marc, Talea, Diana Bou, Lefranc, Gerard, Lévy, Nicolas, Leturcq, France, El Hayek, Stephany, Delague, Valérie, Urtizberea, J. Andoni

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Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation von Nair, Pratibha, Hamzeh, Abdul Rezzak, Mohamed, Madiha, Saif, Fatima, Tawfiq, Nafisa, El Halik, Majdi, Al-Ali, Mahmoud Taleb, Bastaki, Fatma

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Genetics of multifactorial disorders: proceedings of the 6th Pan Arab Human Genetics Conference von Nair, Pratibha, Bizzari, Sami, Rajah, Nirmal, Assaf, Nada, Al-Ali, Mahmoud Taleb, Hamzeh, Abdul Rezzak

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A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE von Hamzeh, Abdul Rezzak, Saif, Fatima, Nair, Pratibha, Binjab, Asma Jassim, Mohamed, Madiha, Al-Ali, Mahmoud Taleb, Bastaki, Fatma

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A Novel Variant in the Endothelin-Converting Enzyme-Like 1 (ECEL1) Gene in an Emirati Child von Hamzeh, Abdul Rezzak, Nair, Pratibha, Mohamed, Madiha, Saif, Fatima, Tawfiq, Nafisa, Khalifa, Mohamed, Al-Ali, Mahmoud Taleb, Bastaki, Fatma

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Genomics into Healthcare: The 5th Pan Arab Human Genetics Conference and 2013 Golden Helix Symposium von Fortina, Paolo, Khaja, Najib Al, Ali, Mahmoud Taleb Al, Hamzeh, Abdul Rezzak, Nair, Pratibha, Innocenti, Federico, Patrinos, George P., Kricka, Larry J.

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Novel PDE6A mutation in an Emirati patient with retinitis pigmentosa von Nair, Pratibha, Hamzeh, Abdul Rezzak, Malik, Ethar Mustafa, Oberoi, Darshjit, Al-Ali, Mahmoud Taleb, Bastaki, Fatma

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Expanded PCH1D phenotype linked to EXOSC9 mutation von Bizzari, Sami, Hamzeh, Abdul Rezzak, Mohamed, Madiha, Al-Ali, Mahmoud Taleb, Bastaki, Fatma

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Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis von Nair, Pratibha, Hamzeh, Abdul Rezzak, Mohamed, Madiha, Malik, Ethar Mustafa, Al-Ali, Mahmoud Taleb, Bastaki, Fatma

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A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22) von Mégarbané, André, Hmaimess, Ghassan, Bizzari, Sami, El-Bazzal, Lara, Al-Ali, Mahmoud Taleb, Stora, Samantha, Delague, Valerie, El-Hayek, Stephany

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A novel SOX18 mutation uncovered in Jordanian patient with hypotrichosis–lymphedema–telangiectasia syndrome by Whole Exome Sequencing von Bastaki, Fatma, Mohamed, Madiha, Nair, Pratibha, Saif, Fatima, Tawfiq, Nafisa, Al-Ali, Mahmoud Taleb, Brandau, Oliver, Hamzeh, Abdul Rezzak

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Identification of a Novel Homozygous INSR Variant in a Patient with Rabson-Mendenhall Syndrome from the United Arab Emirates von Bastaki, Fatma, Nair, Pratibha, Mohamed, Madiha, Khadora, Manal Mustafa, Saif, Fatima, Tawfiq, Nafisa, Al-Ali, Mahmoud Taleb, Hamzeh, Abdul Rezzak

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Meta‐analyses of the association of HLA‐DRB1 alleles with rheumatoid arthritis among Arabs von Bizzari, Sami, Nair, Pratibha, Al Ali, Mahmoud Taleb, Hamzeh, Abdul Rezzak

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