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

по Ali, Bassam R, Silhavy, Jennifer L, Akawi, Nadia A, Gleeson, Joseph G, Al-Gazali, Lihadh
Опубликовано 2012

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

по Akawi, Nadia A, Al-Jasmi, Fatma, Al-Shamsi, Aisha M, Ali, Bassam R, Al-Gazali, Lihadh
Опубликовано 2013

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

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

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

по Qumsieh, Rula Y., Ali, Bassam R., Abdulrazzaq, Yousef M., Osman, Ossama, Akawi, Nadia A., Bastaki, Salim M. A.
Опубликовано 2011

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

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

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

по Akawi, Nadia A., Ben-Salem, Salma, Hertecant, Jozef, John, Anne, Pramathan, Thachillath, Kizhakkedath, Praseetha, Ali, Bassam R., Al-Gazali, Lihadh
Опубликовано в: Orphanet J Rare Dis (2016)

Secondary association of PDLIM5 with paranoid schizophrenia in Emirati patients

по Moselhy, Hamdy, Eapen, Valsamma, Akawi, Nadia A., Younis, Ali, Salih, Badr, Othman, Aws R., Yousef, Said, Clarke, Raymond A., Ali, Bassam R.
Опубликовано в: Meta Gene (2015)

Gonadal Mosaicism in ARID1B Gene Causes Intellectual Disability and Dysmorphic Features in Three Siblings

по Ben-Salem, Salma, Sobreira, Nara, Akawi, Nadia A., Al-Shamsi, Aisha M., John, Anne, Pramathan, Thachillath, Valle, David, Ali, Bassam R., Al-Gazali, Lihadh
Опубликовано в: Am J Med Genet A (2015)

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

по 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
Опубликовано 2011

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

по 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
Опубликовано 2013

Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy

по Ben-Salem, Salma, Robbins, Sarah M, Sobreira, Nara LM, Lyon, Angeline, Al-Shamsi, Aisha M, Islam, Barira K, Akawi, Nadia A, John, Anne, Thachillath, Pramathan, Hamed, Sania Al, Valle, David, Ali, Bassam R, Al-Gazali, Lihadh
Опубликовано в: J Med Genet (2017)

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

по 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.
Опубликовано 2014