SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling
Lin, Yuh-Charn, Niceta, Marcello, Muto, Valentina, Vona, Barbara, Pagnamenta, Alistair T., Maroofian, Reza, Beetz, Christian, van Duyvenvoorde, Hermine, Dentici, Maria Lisa, Lauffer, Peter, Vallian, Sadeq, Ciolfi, Andrea, Pizzi, Simone, Bauer, Peter, Grüning, Nana-Maria, Bellacchio, Emanuele, Del Fattore, Andrea, Petrini, Stefania, Shaheen, Ranad, Tiosano, Dov, Halloun, Rana, Pode-Shakked, Ben, Albayrak, Hatice Mutlu, Işık, Emregül, Wit, Jan M., Dittrich, Marcus, Freire, Bruna L., Bertola, Debora R., Jorge, Alexander A.L., Barel, Ortal, Sabir, Ataf H., Al Tenaiji, Amal M.J., Taji, Sulaima M., Al-Sannaa, Nouriya, Al-Abdulwahed, Hind, Digilio, Maria Cristina, Irving, Melita, Anikster, Yair, Bhavani, Gandham S.L., Girisha, Katta M., Haaf, Thomas, Taylor, Jenny C., Dallapiccola, Bruno, Alkuraya, Fowzan S., Yang, Ruey-Bing, Tartaglia, Marco
Published in American journal of human genetics (07.01.2021)
Published in American journal of human genetics (07.01.2021)
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An expert rule-based approach for identifying infantile-onset Pompe disease patients using retrospective electronic health records
Rustamov, Jaloliddin, Rustamov, Zahiriddin, Mohamad, Mohd Saberi, Zaki, Nazar, Al Tenaiji, Amal, Al Harbi, Mariam, Al Jasmi, Fatma
Published in Scientific reports (14.09.2024)
Published in Scientific reports (14.09.2024)
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Clinical, neuroimaging, and molecular spectrum of TECPR2‐associated hereditary sensory and autonomic neuropathy with intellectual disability
Neuser, Sonja, Brechmann, Barbara, Heimer, Gali, Brösse, Ines, Schubert, Susanna, O'Grady, Lauren, Zech, Michael, Srivastava, Siddharth, Sweetser, David A., Dincer, Yasemin, Mall, Volker, Winkelmann, Juliane, Behrends, Christian, Darras, Basil T., Graham, Robert J., Jayakar, Parul, Byrne, Barry, Bar‐Aluma, Bat El, Haberman, Yael, Szeinberg, Amir, Aldhalaan, Hesham M., Hashem, Mais, Al Tenaiji, Amal, Ismayl, Omar, Al Nuaimi, Asma E., Maher, Karima, Ibrahim, Shahnaz, Khan, Fatima, Houlden, Henry, Ramakumaran, Vijayalakshmi S., Pagnamenta, Alistair T., Posey, Jennifer E., Lupski, James R., Tan, Wen‐Hann, ElGhazali, Gehad, Herman, Isabella, Muñoz, Tatiana, Repetto, Gabriela M., Seitz, Angelika, Krumbiegel, Mandy, Poli, Maria Cecilia, Kini, Usha, Efthymiou, Stephanie, Meiler, Jens, Maroofian, Reza, Alkuraya, Fowzan S., Abou Jamra, Rami, Popp, Bernt, Ben‐Zeev, Bruria, Ebrahimi‐Fakhari, Darius
Published in Human mutation (01.06.2021)
Published in Human mutation (01.06.2021)
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A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features
Shao, Diane D., Straussberg, Rachel, Ahmed, Hind, Khan, Amjad, Tian, Songhai, Hill, R. Sean, Smith, Richard S., Majmundar, Amar J., Ameziane, Najim, Neil, Jennifer E., Yang, Edward, Al Tenaiji, Amal, Jamuar, Saumya S., Schlaeger, Thorsten M., Al-Saffar, Muna, Hovel, Iris, Al-Shamsi, Aisha, Basel-Salmon, Lina, Amir, Achiya Z., Rento, Lariza M., Lim, Jiin Ying, Ganesan, Indra, Shril, Shirlee, Evrony, Gilad, Barkovich, A. James, Bauer, Peter, Hildebrandt, Friedhelm, Dong, Min, Borck, Guntram, Beetz, Christian, Al-Gazali, Lihadh, Eyaid, Wafaa, Walsh, Christopher A.
Published in Genetics in medicine (01.06.2021)
Published in Genetics in medicine (01.06.2021)
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P699: Identification of a novel pathogenic variant in SERPINH1 associated with a presentation of osteogenesis imperfecta: Case study
Zvereff, Val, El Moneim Attia, Azza Abd, Al Tenaiji, Amal, Islam, Sana, Dileep, Anushree, Behl, Shalini
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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Clinical, Biochemical, and Genetic Heterogeneity in Glutaric Aciduria Type II Patients
Ali, Amanat, Almesmari, Fatmah Saeed Ali, Dhahouri, Nahid Al, Saleh Ali, Arwa Mohammad, Aldhanhani, Mohammed Ahmed Ali Mohamed Ahmed, Vijayan, Ranjit, Al Tenaiji, Amal, Al Shamsi, Aisha, Hertecant, Jozef, Al Jasmi, Fatma
Published in Genes (27.08.2021)
Published in Genes (27.08.2021)
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Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records
Akawi, Nadia, Al Mansoori, Ghadeera, Al Zaabi, Anwar, Badics, Andrea, Al Dhaheri, Noura, Al Shamsi, Aisha, Al Tenaiji, Amal, Alzohily, Bashar, Almesmari, Fatmah S A, Al Hammadi, Hamad, Al Dhahouri, Nahid, Irshaid, Manal, Kizhakkedath, Praseetha, Al Shibli, Fatema, Tabouni, Mohammed, Allam, Mushal, Baydoun, Ibrahim, Alblooshi, Hiba, Ali, Bassam R, Foo, Roger S, Al Jasmi, Fatma
Published in Frontiers in molecular biosciences (01.10.2024)
Published in Frontiers in molecular biosciences (01.10.2024)
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A Type 3 Gaucher-Like Disease Due To Saposin C Deficiency in Two Emirati Families Caused by a Novel Splice Site Variant in the PSAP Gene
Mohamed, Feda E., Ali, Amanat, Al-Tenaiji, Amal, Al-Jasmi, Amina, Al-Jasmi, Fatma
Published in Journal of molecular neuroscience (01.06.2022)
Published in Journal of molecular neuroscience (01.06.2022)
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Collapsing glomerulopathy in a child with LCHAD deficiency: a rare association
Kumar, Gurinder, Nair, Rajendran, Hendawy, Bassem Soliman, AlShkeili, Omar Ahmed, Alabdouli, Ahmed Abdulla, Ali, Adnan Mohamed Al, AlTenaiji, Amal Mohamed Jasem
Published in CEN case reports (01.08.2019)
Published in CEN case reports (01.08.2019)
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