More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome
Dhooge, Tibbe, Van Damme, Tim, Syx, Delfien, Mosquera, Laura M., Nampoothiri, Sheela, Radhakrishnan, Anil, Simsek‐Kiper, Pelin O., Utine, Gülen E., Bonduelle, Maryse, Migeotte, Isabelle, Essawi, Osama, Ceylaner, Serdar, Al Kindy, Adila, Tinkle, Brad, Symoens, Sofie, Malfait, Fransiska
Published in Human mutation (01.06.2021)
Published in Human mutation (01.06.2021)
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Journal Article
One in Three: Congenital Bent Bone Disease and Intermittent Hyperthermia in Three Siblings with Stuve-Wiedemann Syndrome
Al-Kindy , Adila, Mani , Renjith, Al-Futaisi , Amna, Koul , Roshan, Sankhla , Dilip
Published in Sultan Qaboos University medical journal (01.05.2013)
Published in Sultan Qaboos University medical journal (01.05.2013)
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Journal Article
Uptake of prenatal genetic diagnosis and termination of pregnancy by Omani Muslim families at risk of genetic disorders: experience over a 9-year period
Bruwer, Zandré, Al Ubaidani, Salwa, Al Kharusi, Khalsa, Al Murshedi, Fathiya, Al-Maawali, Almundher, Al Sayegh, Abeer, Al Kindy, Adila, Al Riyami, Nihal, Al Dughaishi, Tamima, Al Salmani, Mouza, Al Hashmi, Nadia, Al Shehhi, Maryam, Al Fahdi, Badriya, Al Amri, Sumaya, Al-Thihli, Khalid
Published in Journal of community genetics (01.06.2022)
Published in Journal of community genetics (01.06.2022)
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Journal Article
Correction to: Expanding the genetic heterogeneity of intellectual disability
Anazi, Shams, Maddirevula, Sateesh, Salpietro, Vincenzo, Asi, Yasmine T., Alsahli, Saud, Alhashem, Amal, Shamseldin, Hanan E., AlZahrani, Fatema, Patel, Nisha, Ibrahim, Niema, Abdulwahab, Firdous M., Hashem, Mais, Alhashmi, Nadia, Al Murshedi, Fathiya, Al Kindy, Adila, Alshaer, Ahmad, Rumayyan, Ahmed, Al Tala, Saeed, Kurdi, Wesam, Alsaman, Abdulaziz, Alasmari, Ali, Banu, Selina, Sultan, Tipu, Saleh, Mohammed M., Alkuraya, Hisham, Salih, Mustafa A., Aldhalaan, Hesham, Ben-Omran, Tawfeg, Al Musafri, Fatima, Ali, Rehab, Suleiman, Jehan, Tabarki, Brahim, El-Hattab, Ayman W., Bupp, Caleb, Alfadhel, Majid, Al Tassan, Nada, Monies, Dorota, Arold, Stefan T., Abouelhoda, Mohamed, Lashley, Tammaryn, Houlden, Henry, Faqeih, Eissa, Alkuraya, Fowzan S.
Published in Human genetics (2018)
Published in Human genetics (2018)
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Journal Article
A biallelic variant of the RNA exosome gene, EXOSC4, associated with neurodevelopmental defects impairs RNA exosome function and translation
Fasken, Milo B., Leung, Sara W., Cureton, Lauryn A., Al-Awadi, Maha, Al-Kindy, Adila, van Hoof, Ambro, Khoshnevis, Sohail, Ghalei, Homa, Al-Maawali, Almundher, Corbett, Anita H.
Published in The Journal of biological chemistry (01.08.2024)
Published in The Journal of biological chemistry (01.08.2024)
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Journal Article
Expanding the genetic heterogeneity of intellectual disability
Anazi, Shams, Maddirevula, Sateesh, Salpietro, Vincenzo, Asi, Yasmine T., Alsahli, Saud, Alhashem, Amal, Shamseldin, Hanan E., AlZahrani, Fatema, Patel, Nisha, Ibrahim, Niema, Abdulwahab, Firdous M., Hashem, Mais, Alhashmi, Nadia, Al Murshedi, Fathiya, Al Kindy, Adila, Alshaer, Ahmad, Rumayyan, Ahmed, Al Tala, Saeed, Kurdi, Wesam, Alsaman, Abdulaziz, Alasmari, Ali, Banu, Selina, Sultan, Tipu, Saleh, Mohammed M., Alkuraya, Hisham, Salih, Mustafa A., Aldhalaan, Hesham, Ben-Omran, Tawfeg, Al Musafri, Fatima, Ali, Rehab, Suleiman, Jehan, Tabarki, Brahim, El-Hattab, Ayman W., Bupp, Caleb, Alfadhel, Majid, Al Tassan, Nada, Monies, Dorota, Arold, Stefan T., Abouelhoda, Mohamed, Lashley, Tammaryn, Houlden, Henry, Faqeih, Eissa, Alkuraya, Fowzan S.
Published in Human genetics (01.11.2017)
Published in Human genetics (01.11.2017)
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Journal Article
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity
Braun, Daniela A., Schueler, Markus, Halbritter, Jan, Gee, Heon Yung, Porath, Jonathan D., Lawson, Jennifer A., Airik, Rannar, Shril, Shirlee, Allen, Susan J., Stein, Deborah, Al Kindy, Adila, Beck, Bodo B., Cengiz, Nurcan, Moorani, Khemchand N., Ozaltin, Fatih, Hashmi, Seema, Sayer, John A., Bockenhauer, Detlef, Soliman, Neveen A., Otto, Edgar A., Lifton, Richard P., Hildebrandt, Friedhelm
Published in Kidney international (01.02.2016)
Published in Kidney international (01.02.2016)
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Journal Article
Microphthalmos-anophthalmos-coloboma (MAC) spectrum in two brothers with Renpenning syndrome due to a truncating mutation in the polyglutamine tract binding protein 1 ( PQBP1 ) gene
Mameesh, Maha M, Al-Kindy, Adila, Al-Yahyai, Majda, Ganesh, Anuradha
Published in Ophthalmic genetics (02.11.2019)
Published in Ophthalmic genetics (02.11.2019)
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Journal Article
Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of Patients with Autism Spectrum Disorders from a Highly Consanguineous Population
Al-Mamari, Watfa, Al-Saegh, Abeer, Al-Kindy, Adila, Bruwer, Zandre, Al-Murshedi, Fathiya, Al-Thihli, Khalid
Published in Journal of autism and developmental disorders (01.08.2015)
Published in Journal of autism and developmental disorders (01.08.2015)
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Journal Article
Inborn errors of metabolism in a cohort of pregnancies with non-immune hydrops fetalis: a single center experience
Bruwer, Zandrè, Al Riyami, Nihal, Al Dughaishi, Tamima, Al Murshedi, Fathiya, Al Sayegh, Abeer, Al Kindy, Adila, Meftah, Douja, Al Kharusi, Khalsa, Al Foori, Amel, Al Yarubi, Naeema, Scott, Patrick, Al-Thihli, Khalid
Published in Journal of perinatal medicine (01.12.2018)
Published in Journal of perinatal medicine (01.12.2018)
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Journal Article
Applying whole exome sequencing in a consanguineous population with autism spectrum disorder
Al-Mamari, Watfa, Idris, Ahmed B., Al-Thihli, Khalid, Abdulrahim, Reem, Jalees, Saquib, Al-Jabri, Muna, Gabr, Ahlam, Al Murshedi, Fathiya, Al Kindy, Adila, Al-Hadabi, Intisar, Bruwer, Zandrè, Islam, M. Mazharul, Alsayegh, Abeer
Published in International journal of developmental disabilities (2023)
Published in International journal of developmental disabilities (2023)
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Journal Article
Constitutional trisomy 8 mosaicism syndrome: case report and review
Udayakumar, Achandira M., Al-Kindy, Adila
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.12.2013)
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.12.2013)
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Journal Article
A rare case of de novo mosaicism: Deletion 18p and isochromosome 18q syndrome
Udayakumar, Achandira M., Al-Kindy, Adila
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.09.2013)
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.09.2013)
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Journal Article
A Biallelic Variant of the RNA Exosome Gene EXOSC4 Causes Translational Defects Associated with a Neurodevelopmental Disorder
Fasken, Milo B, Leung, Sara W, Cureton, Lauryn A, Al-Awadi, Maha, Al-Kindy, Adila, Khoshnevis, Sohail, Ghalei, Homa, Al-Maawali, Almundher, Corbett, Anita H
Published in medRxiv : the preprint server for health sciences (28.10.2023)
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Published in medRxiv : the preprint server for health sciences (28.10.2023)
Journal Article
Microphthalmos-anophthalmos-coloboma (MAC) spectrum in two brothers with Renpenning syndrome due to a truncating mutation in the polyglutamine tract binding protein 1 (PQBP1) gene
Mameesh, Maha M., Al-Kindy, Adila, Al-Yahyai, Majda, Ganesh, Anuradha
Published in Ophthalmic Genetics (02.11.2019)
Published in Ophthalmic Genetics (02.11.2019)
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