Ohcanbohtosat - Al‐Gazali, Lihadh

Genetic disorders in the Arab world Dahkki Al-Gazali, Lihadh, Hamamy, Hanan, Al-Arrayad, Shaikha

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Degradation routes of trafficking-defective VLDLR mutants associated with Dysequilibrium syndrome Dahkki Kizhakkedath, Praseetha, John, Anne, Al-Gazali, Lihadh, Ali, Bassam R.

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Further Delineation of the Microcephaly-Micromelia Syndrome Associated with Loss-of-Function Variants in DONSON Dahkki Abdelrahman, Hanadi A., John, Anne, Ali, Bassam R., Al-Gazali, Lihadh

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Pharmaceutical Chaperones and Proteostasis Regulators in the Therapy of Lysosomal Storage Disorders: Current Perspective and Future Promises Dahkki Mohamed, Fedah E., Al-Gazali, Lihadh, Al-Jasmi, Fatma, Ali, Bassam R.

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A novel de novo mutation in DYNC1H1 gene underlying malformation of cortical development and cataract Dahkki Hertecant, Jozef, Komara, Makanko, Nagi, Aslam, Suleiman, Jehan, Al-Gazali, Lihadh, Ali, Bassam R.

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Endoplasmic reticulum quality control of LDLR variants associated with familial hypercholesterolemia Dahkki Kizhakkedath, Praseetha, John, Anne, Al‐Sawafi, Buthaina K., Al‐Gazali, Lihadh, Ali, Bassam R.

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A Novel SLC1A4 Mutation (p.Y191*) Causes Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SPATCCM) With Seizure Disorder Dahkki Abdelrahman, Hanadi A., Al-Shamsi, Aisha, John, Anne, Ali, Bassam R., Al-Gazali, Lihadh

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Normal glycosylation screening does not rule out SRD5A3-CDG Dahkki Mohamed, Miski, Cantagrel, Vincent, Al-Gazali, Lihadh, Wevers, Ron A, Lefeber, Dirk J, Morava, Eva

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A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance Dahkki Ali, Bassam R, Silhavy, Jennifer L, Akawi, Nadia A, Gleeson, Joseph G, Al-Gazali, Lihadh

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A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion Dahkki Ali, Bassam R, Silhavy, Jennifer L, Gleeson, Matthew J, Gleeson, Joseph G, Al-Gazali, Lihadh

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LINS, a modulator of the WNT signaling pathway, is involved in human cognition Dahkki Akawi, Nadia A, Al-Jasmi, Fatma, Al-Shamsi, Aisha M, Ali, Bassam R, Al-Gazali, Lihadh

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Mutation spectrum of Joubert syndrome and related disorders among Arabs Dahkki Ben-Salem, Salma, Al-Shamsi, Aisha M, Gleeson, Joseph G, Ali, Bassam R, Al-Gazali, Lihadh

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Mutation spectrum of Joubert syndrome and related disorders among Arabs Dahkki Ben-Salem, Salma, Al-Shamsi, Aisha M, Gleeson, Joseph G, Ali, Bassam R, Al-Gazali, Lihadh

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Homozygosity Mapping in Families with Joubert Syndrome Identifies a Locus on Chromosome 9q34.3 and Evidence for Genetic Heterogeneity Dahkki Saar, Kathrin, Al-Gazali, Lihadh, Sztriha, László, Rueschendorf, Franz, Nur-E-Kamal, Mohammed, Reis, André, Bayoumi, Riad

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Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates Dahkki Ali, Bassam R, Akawi, Nadia A, Chedid, Faris, Bakir, Mahmood, Ur Rehman, Moghis, Rahmani, Aiman, Al-Gazali, Lihadh

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Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients Dahkki Ali, Bassam R., Xu, Huifang, Akawi, Nadia A., John, Anne, Karuvantevida, Noushad S., Langer, Ruth, Al-Gazali, Lihadh, Leitinger, Birgit

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Clathrin heavy chain 22 contributes to the control of neuropeptide degradation and secretion during neuronal development Dahkki Nahorski, Michael S., Borner, Georg H. H., Shaikh, Samiha S., Davies, Alexandra K., Al-Gazali, Lihadh, Antrobus, Robin, Woods, C. Geoffrey

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Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay Dahkki Ben-Salem, Salma, Gleeson, Joseph G., Al-Shamsi, Aisha M., Islam, Barira, Hertecant, Jozef, Ali, Bassam R., Al-Gazali, Lihadh

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A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement Dahkki Akawi, Nadia A., Ben-Salem, Salma, Hertecant, Jozef, John, Anne, Pramathan, Thachillath, Kizhakkedath, Praseetha, Ali, Bassam R., Al-Gazali, Lihadh

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VKORC1 variants as significant predictors of warfarin dose in Emiratis Dahkki Al-Mahayri, Zeina N, Al Jaibeji, Hayat S, Saab, Yolande, Soliman, Karem, Al-Gazali, Lihadh, Patrinos, George P, Ali, Bassam R

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