Mutation spectrum of non‐syndromic hearing loss in the UAE, a retrospective cohort study and literature review by Omnia Elsayed, Aisha Al‐Shamsi

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A novel frameshift homozygous mutation in FAT1 gene causes ptosis, nephropathy, and syndactyly in an Emirati family: case report and literature review by Abdulla Al Blooshi, Aisha Al-Shamsi

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A Single‐Center Retrospective Cohort Study of Biopterin Metabolism Disorders in the United Arab Emirates by Omar Jarrah, Mahmood Nouri, Aisha Al Shamsi

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Carbamoly-phosphate synthetase 1 (CPS1) deficiency: A tertiary center retrospective cohort study and literature review by Mahmood Noori, Omar Jarrah, Aisha Al Shamsi

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A novel missense heterozygous mutation in MAP3K1 gene causes 46, XY disorder of sex development: case report and literature review by Aisha Al Shamsi, Noura Al Hassani, Moustafa Hamchou, Raya Almazrouei, Aziz Mhanni

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Hereditary orotic aciduria (HOA): A novel uridine-5-monophosphate synthase (UMPS) mutation by Hebah S. Al Absi, Stephanie Sacharow, Naser Al Zein, Aisha Al Shamsi, Amal Al Teneiji

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Combined SPINK1 mutations induce early-onset severe chronic pancreatitis in a child with severe obesity by Maha Khalil Abass, Aisha Al Shamsi, Iftikhar Jan, Mohammed Suhail Yasin Masalawala, Asma Deeb

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Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis : A study from Tawam Hospital Metabolic Center, United Arab Emirates by Aisha Al-Shamsi, Jozef L. Hertecant, Sania Al-Hamad, Abdul-Kader Souid, Fatma Al-Jasmi

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Rare Coexistence of Acute Intermittent Porphyria With Systemic Lupus Erythematous: Case Report and Literature Review by Asmaa Yusuf MD, Omar Alhaj MD, Afra Aldaheri MD, Aisha AlShamsi MD, Mozah AlMarshoodi MD, Fatima AlKindi MD, Farooqi Mohammed MD, Raya Almazrouei MD

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Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records by Nadia Akawi, Nadia Akawi, Ghadeera Al Mansoori, Anwar Al Zaabi, Andrea Badics, Noura Al Dhaheri, Noura Al Dhaheri, Aisha Al Shamsi, Amal Al Tenaiji, Amal Al Tenaiji, Bashar Alzohily, Fatmah S. A. Almesmari, Hamad Al Hammadi, Nahid Al Dhahouri, Manal Irshaid, Praseetha Kizhakkedath, Fatema Al Shibli, Mohammed Tabouni, Mushal Allam, Mushal Allam, Ibrahim Baydoun, Hiba Alblooshi, Bassam R. Ali, Roger S. Foo, Roger S. Foo, Fatma Al Jasmi

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MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death by Mohammad K. Eldomery, Zeynep C. Akdemir, F.-Nora Vögtle, Wu-Lin Charng, Patrycja Mulica, Jill A. Rosenfeld, Tomasz Gambin, Shen Gu, Lindsay C. Burrage, Aisha Al Shamsi, Samantha Penney, Shalini N. Jhangiani, Holly H. Zimmerman, Donna M. Muzny, Xia Wang, Jia Tang, Ravi Medikonda, Prasanna V. Ramachandran, Lee-Jun Wong, Eric Boerwinkle, Richard A. Gibbs, Christine M. Eng, Seema R. Lalani, Jozef Hertecant, Richard J. Rodenburg, Omar A. Abdul-Rahman, Yaping Yang, Fan Xia, Meng C. Wang, James R. Lupski, Chris Meisinger, V. Reid Sutton

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Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with simila... by Francesco Vetrini, Shane McKee, Jill A. Rosenfeld, Mohnish Suri, Andrea M. Lewis, Kimberly Margaret Nugent, Elizabeth Roeder, Rebecca O. Littlejohn, Sue Holder, Wenmiao Zhu, Joseph T. Alaimo, Brett Graham, Jill M. Harris, James B. Gibson, Matthew Pastore, Kim L. McBride, Makanko Komara, Lihadh Al-Gazali, Aisha Al Shamsi, Elizabeth A. Fanning, Klaas J. Wierenga, Daryl A. Scott, Ziva Ben-Neriah, Vardiella Meiner, Hanoch Cassuto, Orly Elpeleg, J. Lloyd Holder Jr, Lindsay C. Burrage, Laurie H. Seaver, Lionel Van Maldergem, Sonal Mahida, Janet S. Soul, Margaret Marlatt, Ludmila Matyakhina, Julie Vogt, June-Anne Gold, Soo-Mi Park, Vinod Varghese, Anne K. Lampe, Ajith Kumar, Melissa Lees, Muriel Holder-Espinasse, Vivienne McConnell, Birgitta Bernhard, Ed Blair, Victoria Harrison, The DDD study, Donna M. Muzny, Richard A. Gibbs, Sarah H. Elsea, Jennifer E. Posey, Weimin Bi, Seema Lalani, Fan Xia, Yaping Yang, Christine M. Eng, James R. Lupski, Pengfei Liu

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De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith... by Francesco Vetrini, Shane McKee, Jill A. Rosenfeld, Mohnish Suri, Andrea M. Lewis, Kimberly Margaret Nugent, Elizabeth Roeder, Rebecca O. Littlejohn, Sue Holder, Wenmiao Zhu, Joseph T. Alaimo, Brett Graham, Jill M. Harris, James B. Gibson, Matthew Pastore, Kim L. McBride, Makanko Komara, Lihadh Al-Gazali, Aisha Al Shamsi, Elizabeth A. Fanning, Klaas J. Wierenga, Daryl A. Scott, Ziva Ben-Neriah, Vardiella Meiner, Hanoch Cassuto, Orly Elpeleg, J. Lloyd Holder, Lindsay C. Burrage, Laurie H. Seaver, Lionel Van Maldergem, Sonal Mahida, Janet S. Soul, Margaret Marlatt, Ludmila Matyakhina, Julie Vogt, June-Anne Gold, Soo-Mi Park, Vinod Varghese, Anne K. Lampe, Ajith Kumar, Melissa Lees, Muriel Holder-Espinasse, Vivienne McConnell, Birgitta Bernhard, Ed Blair, Victoria Harrison, The DDD study, Donna M. Muzny, Richard A. Gibbs, Sarah H. Elsea, Jennifer E. Posey, Weimin Bi, Seema Lalani, Fan Xia, Yaping Yang, Christine M. Eng, James R. Lupski, Pengfei Liu

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