Search Results - Al-Shamsi, Aisha M.

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  1. 1
    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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  2. 2
    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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  3. 3
    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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  4. 4
    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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  5. 5
    Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus

    Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus by Al-Jezawi, Nesreen K., Al-Shamsi, Aisha M., Suleiman, Jehan, Ben-Salem, Salma, John, Anne, Vijayan, Ranjit, Ali, Bassam R., Al-Gazali, Lihadh

    Published 2018
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  6. 6
    Gonadal Mosaicism in ARID1B Gene Causes Intellectual Disability and Dysmorphic Features in Three Siblings

    Gonadal Mosaicism in ARID1B Gene Causes Intellectual Disability and Dysmorphic Features in Three Siblings by 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 2015
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  7. 7
    Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy

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

    Published 2017
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  8. 8
    Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort

    Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort by Bertoli-Avella, Aida M., Beetz, Christian, Ameziane, Najim, Rocha, Maria Eugenia, Guatibonza, Pilar, Pereira, Catarina, Calvo, Maria, Herrera-Ordonez, Natalia, Segura-Castel, Monica, Diego-Alvarez, Dan, Zawada, Michal, Kandaswamy, Krishna K., Werber, Martin, Paknia, Omid, Zielske, Susan, Ugrinovski, Dimitar, Warnack, Gitte, Kampe, Kapil, Iurașcu, Marius-Ionuț, Cozma, Claudia, Vogel, Florian, Alhashem, Amal, Hertecant, Jozef, Al-Shamsi, Aisha M., Alswaid, Abdulrahman Faiz, Eyaid, Wafaa, Al Mutairi, Fuad, Alfares, Ahmed, Albalwi, Mohammed A., Alfadhel, Majid, Al-Sannaa, Nouriya Abbas, Reardon, Willie, Alanay, Yasemin, Rolfs, Arndt, Bauer, Peter

    Published 2020
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  9. 9
    Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders

    Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders by Bertoli-Avella, Aida M., Kandaswamy, Krishna K., Khan, Suliman, Ordonez-Herrera, Natalia, Tripolszki, Kornelia, Beetz, Christian, Rocha, Maria Eugenia, Urzi, Alize, Hotakainen, Ronja, Leubauer, Anika, Al-Ali, Ruslan, Karageorgou, Vasiliki, Moldovan, Oana, Dias, Patrícia, Alhashem, Amal, Tabarki, Brahim, Albalwi, Mohammed A., Alswaid, Abdulrahman Faiz, Al-Hassnan, Zuhair N., Alghamdi, Malak Ali, Hadipour, Zahra, Hadipour, Fatemeh, Al Hashmi, Nadia, Al-Gazali, Lihadh, Cheema, Huma, Zaki, Maha S., Hüning, Irina, Alfares, Ahmed, Eyaid, Wafaa, Al Mutairi, Fuad, Alfadhel, Majid, Alkuraya, Fowzan S., Al-Sannaa, Nouriya Abbas, AlShamsi, Aisha M., Ameziane, Najim, Rolfs, Arndt, Bauer, Peter

    Published 2021
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