A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement
Akawi, Nadia A, Ben-Salem, Salma, Hertecant, Jozef, John, Anne, Pramathan, Thachillath, Kizhakkedath, Praseetha, Ali, Bassam R, Al-Gazali, Lihadh
Published in Orphanet journal of rare diseases (21.10.2016)
Published in Orphanet journal of rare diseases (21.10.2016)
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Journal Article
Lung tissue bioenergetics and caspase activity in rodents
Alsuwaidi, Ahmed R, Alsamri, Mohammed T, Alfazari, Ali S, Almarzooqi, Saeeda, Albawardi, Alia, Othman, Aws R, Pramathan, Thachillath, Hartwig, Stacey M, Varga, Steven M, Souid, Abdul-Kader
Published in BMC research notes (12.01.2013)
Published in BMC research notes (12.01.2013)
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Forebrain cellular bioenergetics in neonatal mice
Narchi, Hassib, Thachillath, Pramathan, Souid, Abdul-Kader
Published in Journal of neonatal-perinatal medicine (2018)
Published in Journal of neonatal-perinatal medicine (2018)
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Journal Article
Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy
Ben-Salem, Salma, Robbins, Sarah M, LM Sobreira, Nara, Lyon, Angeline, Al-Shamsi, Aisha M, Islam, Barira K, Akawi, Nadia A, John, Anne, Thachillath, Pramathan, Al Hamed, Sania, Valle, David, Ali, Bassam R, Al-Gazali, Lihadh
Published in Journal of medical genetics (01.02.2018)
Published in Journal of medical genetics (01.02.2018)
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Journal Article
Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings
Ben-Salem, Salma, Sobreira, Nara, Akawi, Nadia A., Al-Shamsi, Aisha M., John, Anne, Pramathan, Thachillath, Valle, David, Ali, Bassam R., Al-Gazali, Lihadh
Published in American journal of medical genetics. Part A (01.01.2016)
Published in American journal of medical genetics. Part A (01.01.2016)
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In vitro study on the pulmonary cytotoxicity of amiodarone
Alsamri, Mohammed T., Pramathan, Thachillath, Souid, Abdul-Kader
Published in Toxicology mechanisms and methods (01.10.2013)
Published in Toxicology mechanisms and methods (01.10.2013)
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In vitro biocompatibility of calcined mesoporous silica particles and fetal blood cells
Al Samri, Mohammed T, Biradar, Ankush V, Alsuwaidi, Ahmed R, Balhaj, Ghazala, Al-Hammadi, Suleiman, Shehab, Safa, Al-Salam, Suhail, Tariq, Saeed, Pramathan, Thachillath, Benedict, Sheela, Asefa, Tewodros, Souid, Abdul-Kader
Published in International journal of nanomedicine (01.01.2012)
Published in International journal of nanomedicine (01.01.2012)
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Mitochondrial Oxygen Consumption by the Foreskin and its Fibroblast Rich Culture = إستهلاك الأوكسجين في المايتوكوندريا من قبل القلفة و الخلايا الليفية
Al-Jasmi, Fatma, Pramathan, Thachillath, Swid, Adnan, Sahari, Bahjat, Penefsky, Harvey S., Souid, Abdul-Kader
Published in Sultan Qaboos University medical journal (01.08.2013)
Published in Sultan Qaboos University medical journal (01.08.2013)
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Journal Article
Mutations in DDHD2, Encoding an Intracellular Phospholipase A^sub 1^, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia
Schuurs-Hoeijmakers, Janneke HM, Geraghty, Michael T, Kamsteeg, Erik-Jan, Ben-Salem, Salma, de Bot, Susanne T, Nijhof, Bonnie, van de Vondervoort, Ilse IGM, 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 PH, van de Warrenburg, Bart P, van den Akker, Willem MR, 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 ELM, Lammens, Martin, van Bokhoven, Hans, Brunner, Han G, Wevers, Ron A, Schenck, Annette, Al-Gazali, Lihadh, de Vries, Bert BA, de Brouwer, Arjan PM
Published in American journal of human genetics (07.12.2012)
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Published in American journal of human genetics (07.12.2012)
Journal Article
Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia
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
Published in American journal of human genetics (07.12.2012)
Published in American journal of human genetics (07.12.2012)
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