Search Results - Al‐Gazali, Lihadh

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  1. 1
    Genetic disorders in the Arab world

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

    Published 2006
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  2. 2
    Degradation routes of trafficking-defective VLDLR mutants associated with Dysequilibrium syndrome

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

    Published 2018
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  3. 3
    Further Delineation of the Microcephaly-Micromelia Syndrome Associated with Loss-of-Function Variants in DONSON

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

    Published 2019
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  4. 4
    Pharmaceutical Chaperones and Proteostasis Regulators in the Therapy of Lysosomal Storage Disorders: Current Perspective and Future Promises

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

    Published 2017
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  5. 5
    A novel de novo mutation in DYNC1H1 gene underlying malformation of cortical development and cataract

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

    Published 2016
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  6. 6
    Endoplasmic reticulum quality control of LDLR variants associated with familial hypercholesterolemia

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

    Published 2019
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  7. 7
    A Novel SLC1A4 Mutation (p.Y191*) Causes Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SPATCCM) With Seizure Disorder

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

    Published 2019
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  8. 8
    Normal glycosylation screening does not rule out SRD5A3-CDG

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

    Published 2011
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  9. 9
    A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance

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

    Published 2012
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  10. 10
    A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion

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

    Published 2012
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  11. 11
    LINS, a modulator of the WNT signaling pathway, is involved in human cognition

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

    Published 2013
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  12. 12
    Mutation spectrum of Joubert syndrome and related disorders among Arabs

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

    Published 2014
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  13. 13
    Mutation spectrum of Joubert syndrome and related disorders among Arabs

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

    Published 2015
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  14. 14
    Homozygosity Mapping in Families with Joubert Syndrome Identifies a Locus on Chromosome 9q34.3 and Evidence for Genetic Heterogeneity

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

    Published 1999
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  15. 15
    Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates

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

    Published 2010
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  16. 16
    Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients

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

    Published 2010
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  17. 17
    Clathrin heavy chain 22 contributes to the control of neuropeptide degradation and secretion during neuronal development

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

    Published 2018
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  18. 18
    Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay

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

    Published 2014
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  19. 19
    A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement

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

    Published 2016
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  20. 20
    VKORC1 variants as significant predictors of warfarin dose in Emiratis

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

    Published 2019
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