Genetics of multifactorial disorders: proceedings of the 6th Pan Arab Human Genetics Conference

por Nair, Pratibha, Bizzari, Sami, Rajah, Nirmal, Assaf, Nada, Al-Ali, Mahmoud Taleb, Hamzeh, Abdul Rezzak
Publicado 2016

Marinesco-Sjögren Syndrome in an Emirati Child with a Novel Mutation in SIL1 Affecting the 5′ Untranslated Region

por Nair, Pratibha, Hamzeh, Abdul Rezzak, Mohamed, Madiha, Tawfiq, Nafisa, Al-Ali, Mahmoud Taleb, Bastaki, Fatma
Publicado 2016

Consanguinity and reproductive health among Arabs

por Tadmouri, Ghazi O, Nair, Pratibha, Obeid, Tasneem, Al Ali, Mahmoud T, Al Khaja, Najib, Hamamy, Hanan A
Publicado 2009

Novel PDE6A mutation in an Emirati patient with retinitis pigmentosa

por Nair, Pratibha, Hamzeh, Abdul Rezzak, Malik, Ethar Mustafa, Oberoi, Darshjit, Al-Ali, Mahmoud Taleb, Bastaki, Fatma
Publicado 2017

Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic Disorders

por Bizzari, Sami, Nair, Pratibha, Deepthi, Asha, Hana, Sayeeda, Al-Ali, Mahmoud Taleb, Megarbané, André, El-Hayek, Stephany
Publicado 2021

Spectrum of genetic disorders and gene variants in the United Arab Emirates national population: insights from the CTGA database

por Bizzari, Sami, Nair, Pratibha, Hana, Sayeeda, Deepthi, Asha, Al-Ali, Mahmoud Taleb, Al-Gazali, Lihadh, El-Hayek, Stephany
Publicado 2023

A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE

por Hamzeh, Abdul Rezzak, Saif, Fatima, Nair, Pratibha, Binjab, Asma Jassim, Mohamed, Madiha, Al-Ali, Mahmoud Taleb, Bastaki, Fatma
Publicado 2017

Identification of a novel CTCF mutation responsible for syndromic intellectual disability – a case report

por Bastaki, Fatma, Nair, Pratibha, Mohamed, Madiha, Malik, Ethar Mustafa, Helmi, Mustafa, Al-Ali, Mahmoud Taleb, Hamzeh, Abdul Rezzak
Publicado 2017

Analphoid supernumerary marker chromosome characterized by aCGH and FISH as inv dup(3)(q25.33qter) de novo in a child with dysmorphic features and streaky pigmentation: case report

por Murthy, Sabita K, Malhotra, Ashok K, Jacob, Preenu S, Naveed, Sehba, Al-Rowaished, Eman EM, Mani, Sara, Padariyakam, Shabeer, Pramathan, R, Nath, Ravi, Al-Ali, Mahmoud Taleb, Al-Gazali, Lihadh
Publicado 2008

A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort

por 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
Publicado 2022

Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases

por Nair, Pratibha, Sabbagh, Sandra, Mansour, Hicham, Fawaz, Ali, Hmaimess, Ghassan, Noun, Peter, Dagher, Rawane, Megarbane, Hala, Hana, Sayeeda, Alame, Saada, Lamaa, Maher, Hasbini, Dana, Farah, Roula, Rajab, Mariam, Stora, Samantha, El‐Tourjuman, Oulfat, Abou Jaoude, Pauline, Chalouhi, Gihad, Sayad, Rony, Gillart, Anne‐Celine, Al‐Ali, Mahmoud, Delague, Valerie, El‐Hayek, Stephany, Mégarbané, André
Publicado 2018