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 no J Transl Med (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 no Med Princ Pract (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 em 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 no Oman J Ophthalmol (2017)

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 no BMC Pediatr (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 no BMC Med Genet (2017)

A Novel Variant in the Endothelin-Converting Enzyme-Like 1 (ECEL1) Gene in an Emirati Child

Por Hamzeh, Abdul Rezzak, Nair, Pratibha, Mohamed, Madiha, Saif, Fatima, Tawfiq, Nafisa, Khalifa, Mohamed, Al-Ali, Mahmoud Taleb, Bastaki, Fatma
Publicado no Med Princ Pract (2017)

COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants?

Por Nair, Pratibha, Lama, Maher, El-Hayek, Stephany, Abou Sleymane, Gretta, Stora, Samantha, Obeid, Marc, Al-Ali, Mahmoud T., Delague, Valérie, Mégarbané, André
Publicado no Mol Syndromol (2019)

Genomics into Healthcare: The 5th Pan Arab Human Genetics Conference and 2013 Golden Helix Symposium

Por Fortina, Paolo, AlKhaja, Najib, Al Ali, Mahmoud Taleb, Hamzeh, Abdul Rezzak, Nair, Pratibha, Innocenti, Federico, Patrinos, George P., Kricka, Larry J.
Publicado em 2014

Molecular Detection Method for All Known Genotypes of TT Virus (TTV) and TTV-Like Viruses in Thalassemia Patients and Healthy Individuals

Por Hu, Yu-Wen, Al-Moslih, Moslih I., Al Ali, Mahmoud Talib, Khameneh, Shabnam Rahimi, Perkins, Heather, Diaz-Mitoma, Francisco, Roy, Jean Nicholas, Uzicanin, Samra, Brown, Earl G.
Publicado em 2005

Genomewide Linkage Scan for Split–Hand/Foot Malformation with Long-Bone Deficiency in a Large Arab Family Identifies Two Novel Susceptibility Loci on Chromosomes 1q42.2-q43 and 6q1...

Por Naveed, Mohammed, Nath, Swapan K., Gaines, Mathew, Al-Ali, Mahmoud T., Al-Khaja, Najib, Hutchings, David, Golla, Jeffrey, Deutsch, Samuel, Bottani, Armand, Antonarakis, Stylianos E., Ratnamala, Uppala, Radhakrishna, Uppala
Publicado em 2007

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 em 2008

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 no Mol Genet Genomic Med (2018)