A mutation in <it>KIF7</it> is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance

by Ali Bassam R, Silhavy Jennifer L, Akawi Nadia A, Gleeson Joseph G, Al-Gazali Lihadh
Published 2012-05-01

A missense founder mutation in <it>VLDLR</it> is associated with Dysequilibrium Syndrome without quadrupedal locomotion

by Ali Bassam R, Silhavy Jennifer L, Gleeson Matthew J, Gleeson Joseph G, Al-Gazali Lihadh
Published 2012-09-01

Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates

by Rahmani Aiman, Ur Rehman Moghis, Chedid Faris, Bakir Mahmood, Akawi Nadia A, Ali Bassam R, Al-Gazali Lihadh
Published 2010-02-01

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

by Pramathan R, Padariyakam Shabeer, Mani Sara, Al-Rowaished Eman EM, Naveed Sehba, Jacob Preenu S, Malhotra Ashok K, Murthy Sabita K, Nath Ravi, Al-Ali Mahmoud, Al-Gazali Lihadh
Published 2008-08-01