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

Por Ali, Bassam R, Silhavy, Jennifer L, Akawi, Nadia A, Gleeson, Joseph G, Al-Gazali, Lihadh
Publicado em 2012

LINS, a modulator of the WNT signaling pathway, is involved in human cognition

Por Akawi, Nadia A, Al-Jasmi, Fatma, Al-Shamsi, Aisha M, Ali, Bassam R, Al-Gazali, Lihadh
Publicado em 2013

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

Por Ali, Bassam R, Akawi, Nadia A, Chedid, Faris, Bakir, Mahmood, Ur Rehman, Moghis, Rahmani, Aiman, Al-Gazali, Lihadh
Publicado em 2010

Identification of New Alleles and the Determination of Alleles and Genotypes Frequencies at the CYP2D6 Gene in Emiratis

Por Qumsieh, Rula Y., Ali, Bassam R., Abdulrazzaq, Yousef M., Osman, Ossama, Akawi, Nadia A., Bastaki, Salim M. A.
Publicado em 2011

Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients

Por Ali, Bassam R., Xu, Huifang, Akawi, Nadia A., John, Anne, Karuvantevida, Noushad S., Langer, Ruth, Al-Gazali, Lihadh, Leitinger, Birgit
Publicado em 2010

A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement

Por Akawi, Nadia A., Ben-Salem, Salma, Hertecant, Jozef, John, Anne, Pramathan, Thachillath, Kizhakkedath, Praseetha, Ali, Bassam R., Al-Gazali, Lihadh
Publicado no Orphanet J Rare Dis (2016)

Secondary association of PDLIM5 with paranoid schizophrenia in Emirati patients

Por Moselhy, Hamdy, Eapen, Valsamma, Akawi, Nadia A., Younis, Ali, Salih, Badr, Othman, Aws R., Yousef, Said, Clarke, Raymond A., Ali, Bassam R.
Publicado no Meta Gene (2015)

Endoplasmic Reticulum Quality Control Is Involved in the Mechanism of Endoglin-Mediated Hereditary Haemorrhagic Telangiectasia

Por Ali, Bassam R., Ben-Rebeh, Imen, John, Anne, Akawi, Nadia A., Milhem, Reham M., Al-Shehhi, Nouf A., Al-Ameri, Mouza M., Al-Shamisi, Shamma A., Al-Gazali, Lihadh
Publicado em 2011

Delineation of the Clinical, Molecular and Cellular Aspects of Novel JAM3 Mutations Underlying the Autosomal Recessive Hemorrhagic Destruction of the Brain, Subependymal Calcificat...

Por Akawi, Nadia A., Canpolat, Fuat E., White, Susan M., Quilis-Esquerra, Josep, Sanchez, Martin Morales, Gamundi, Maria José, Mochida, Ganeshwaran H., Walsh, Christopher A., Ali, Bassam R., Al-Gazali, Lihadh
Publicado em 2013

A Homozygous Mutation in the Tight-Junction Protein JAM3 Causes Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts

Por Mochida, Ganeshwaran H., Ganesh, Vijay S., Felie, Jillian M., Gleason, Danielle, Hill, R. Sean, Clapham, Katie Rose, Rakiec, Daniel, Tan, Wen-Hann, Akawi, Nadia, Al-Saffar, Muna, Partlow, Jennifer N., Tinschert, Sigrid, Barkovich, A. James, Ali, Bassam, Al-Gazali, Lihadh, Walsh, Christopher A.
Publicado em 2010

METTL23, a transcriptional partner of GABPA, is essential for human cognition

Por Reiff, Rachel E., Ali, Bassam R., Baron, Byron, Yu, Timothy W., Ben-Salem, Salma, Coulter, Michael E., Schubert, Christian R., Hill, R. Sean, Akawi, Nadia A., Al-Younes, Banan, Kaya, Namik, Evrony, Gilad D., Al-Saffar, Muna, Felie, Jillian M., Partlow, Jennifer N., Sunu, Christine M., Schembri-Wismayer, Pierre, Alkuraya, Fowzan S., Meyer, Brian F., Walsh, Christopher A., Al-Gazali, Lihadh, Mochida, Ganeshwaran H.
Publicado em 2014

Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy

Por Muona, Mikko, Ishimura, Ryosuke, Laari, Anni, Ichimura, Yoshinobu, Linnankivi, Tarja, Keski-Filppula, Riikka, Herva, Riitta, Rantala, Heikki, Paetau, Anders, Pöyhönen, Minna, Obata, Miki, Uemura, Takefumi, Karhu, Thomas, Bizen, Norihisa, Takebayashi, Hirohide, McKee, Shane, Parker, Michael J., Akawi, Nadia, McRae, Jeremy, Hurles, Matthew E., Kuismin, Outi, Kurki, Mitja I., Anttonen, Anna-Kaisa, Tanaka, Keiji, Palotie, Aarno, Waguri, Satoshi, Lehesjoki, Anna-Elina, Komatsu, Masaaki
Publicado no Am J Hum Genet (2016)