Breast Arterial Calcifications on Mammography Do Not Predict Myocardial Ischemia on Myocardial Perfusion Single-Photon Emission Computed Tomography

Por Fathala, Ahmed, Salem, Salma, Alanazi, Fahad, Abunayyan, Deema, Eldali, Abdelmoneim M., Alsugair, Abdulaziz
Publicado no Cardiol Res (2017)

Mutation spectrum of Joubert syndrome and related disorders among Arabs

Por Ben-Salem, Salma, Al-Shamsi, Aisha M, Gleeson, Joseph G, Ali, Bassam R, Al-Gazali, Lihadh
Publicado no Hum Genome Var (2014)

Mutation spectrum of Joubert syndrome and related disorders among Arabs

Por Ben-Salem, Salma, Al-Shamsi, Aisha M, Gleeson, Joseph G, Ali, Bassam R, Al-Gazali, Lihadh
Publicado no Hum Genome Var (2015)

A new Arab family with CEDNIK syndrome suggests a possible founder effect for the c.223delG mutation

Por Ben-Salem, Salma, Nara, Sobreira, Al-Shamsi, Aisha M., Valle, David, Ali, Bassam R., Al-Gazali, Lihadh
Publicado no J Dermatol (2015)

Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay

Por Ben-Salem, Salma, Gleeson, Joseph G., Al-Shamsi, Aisha M., Islam, Barira, Hertecant, Jozef, Ali, Bassam R., Al-Gazali, Lihadh
Publicado no Metab Brain Dis (2014)

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)

Substantiation of 25 kGy radiation sterilization dose for banked air dried amniotic membrane and evaluation of personnel skill in influencing finished product bioburden

Por Marsit, Nagi, Dwejen, Samira, Saad, Ibrahim, Abdalla, Sedigh, Shaab, Arej, Salem, Salma, Khanfas, Enas, Hasan, Anas, Mansur, Mohamed, Abdul Sammad, Mohamed
Publicado no Cell Tissue Bank (2014)

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

Por Ben-Salem, Salma, Sobreira, Nara, Akawi, Nadia A., Al-Shamsi, Aisha M., John, Anne, Pramathan, Thachillath, Valle, David, Ali, Bassam R., Al-Gazali, Lihadh
Publicado no Am J Med Genet A (2015)

Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalamia in humans and mice

Por Nair, K Saidas, Hmani-Aifa, Mounira, Ali, Zain, Kearney, Alison L, Salem, Salma Ben, Macalinao, Danilo G, Cosma, Ioan M, Bouassida, Walid, Hakim, Bochra, Benzina, Zeineb, Soto, Ileana, Söderkvist, Peter, Howell, Gareth R, Smith, Richard S, Ayadi, Hammadi, John, Simon W M
Publicado no Nat Genet (2011)

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

A comprehensive analysis of coregulator recruitment, androgen receptor function and gene expression in prostate cancer

Por Liu, Song, Kumari, Sangeeta, Hu, Qiang, Senapati, Dhirodatta, Venkadakrishnan, Varadha Balaji, Wang, Dan, DePriest, Adam D, Schlanger, Simon E, Ben-Salem, Salma, Valenzuela, Malyn May, Willard, Belinda, Mudambi, Shaila, Swetzig, Wendy M, Das, Gokul M, Shourideh, Mojgan, Koochekpour, Shahriah, Falzarano, Sara Moscovita, Magi-Galluzzi, Cristina, Yadav, Neelu, Chen, Xiwei, Lao, Changshi, Wang, Jianmin, Billaud, Jean-Noel, Heemers, Hannelore V
Publicado no eLife (2017)

Correction: A comprehensive analysis of coregulator recruitment, androgen receptor function and gene expression in prostate cancer

Por Liu, Song, Kumari, Sangeeta, Hu, Qiang, Senapati, Dhirodatta, Venkadakrishnan, Varadha Balaji, Wang, Dan, DePriest, Adam D, Schlanger, Simon E, Ben-Salem, Salma, Valenzuela, Malyn May, Willard, Belinda, Mudambi, Shaila, Swetzig, Wendy M, Das, Gokul M, Shourideh, Mojgan, Koochekpour, Shahriah, Falzarano, Sara Moscovita, Magi-Galluzzi, Cristina, Yadav, Neelu, Chen, Xiwei, Lao, Changshi, Wang, Jianmin, Billaud, Jean-Noel, Heemers, Hannelore V
Publicado no eLife (2017)

Mutations in DDHD2, Encoding an Intracellular Phospholipase A(1), Cause a Recessive Form of Complex Hereditary Spastic Paraplegia

Por Schuurs-Hoeijmakers, Janneke H.M., Geraghty, Michael T., Kamsteeg, Erik-Jan, Ben-Salem, Salma, de Bot, Susanne T., Nijhof, Bonnie, van de Vondervoort, Ilse I.G.M., van der Graaf, Marinette, Nobau, Anna Castells, Otte-Höller, Irene, Vermeer, Sascha, Smith, Amanda C., Humphreys, Peter, Schwartzentruber, Jeremy, Ali, Bassam R., Al-Yahyaee, Saeed A., Tariq, Said, Pramathan, Thachillath, Bayoumi, Riad, Kremer, Hubertus P.H., van de Warrenburg, Bart P., van den Akker, Willem M.R., Gilissen, Christian, Veltman, Joris A., Janssen, Irene M., Vulto-van Silfhout, Anneke T., van der Velde-Visser, Saskia, Lefeber, Dirk J., Diekstra, Adinda, Erasmus, Corrie E., Willemsen, Michèl A., Vissers, Lisenka E.L.M., Lammens, Martin, van Bokhoven, Hans, Brunner, Han G., Wevers, Ron A., Schenck, Annette, Al-Gazali, Lihadh, de Vries, Bert B.A., de Brouwer, Arjan P.M.
Publicado em 2012