A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing

por Alonazi, Noufa A., Hundallah, Khalid J., Al Hashem, Amal M., Mohamed, Sarar
Publicado 2018

PRUNE Syndrome Is a New Neurodevelopmental Disorder: Report and Review

por Alfadhel, Majid, Nashabat, Marwan, Hundallah, Khalid, Al Hashem, Amal, Alrumayyan, Ahmed, Tabarki, Brahim
Publicado 2018

Neurological expression of an inherited translocation of chromosomal 1 and 7

por AlMajhad, Nabil A., AlHashem, Amal M., Bouhjar, Inesse A., Tabarki, Brahim M.
Publicado 2017

Neuroregression, coarse features, and oligosaccharides in urines

por BoAli, Ahmed Y., Tlili-Graiess, Kalthoum, AlHashem, Amal M., Tabarki, Brahim M.
Publicado 2017

Biodegradation of feather waste by keratinase produced from newly isolated Bacillus licheniformis ALW1

por Abdel-Fattah, Azza M., El-Gamal, Mamdouh S., Ismail, Siham A., Emran, Mohamed A., Hashem, Amal M.
Publicado 2018

Multiplexed Integrating Plasmids for Engineering of the Erythromycin Gene Cluster for Expression in Streptomyces spp. and Combinatorial Biosynthesis

por Fayed, Bahgat, Ashford, David A., Hashem, Amal M., Amin, Magdy A., El Gazayerly, Omaima N., Gregory, Matthew A., Smith, Margaret C. M.
Publicado 2015

Patterns of folic acid use in pregnant Saudi women and prevalence of neural tube defects — Results from a nested case–control study()

por Al Rakaf, Maha S., Kurdi, Ahmed M., Ammari, Amer N., Al Hashem, Amal M., Shoukri, Mohamed M., Garne, Ester, Majeed-Saidan, Muhammad Ali
Publicado 2015

Congenital anomalies and associated risk factors in a Saudi population: a cohort study from pregnancy to age 2 years

por Kurdi, Ahmed M, Majeed-Saidan, Muhammad Ali, Al Rakaf, Maha S, AlHashem, Amal M, Botto, Lorenzo D, Baaqeel, Hassan S, Ammari, Amer N
Publicado 2019

Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia

por Wakil, Salma M., Alhissi, Safa, Al Dossari, Haya, Alqahtani, Ayesha, Shibin, Sherin, Melaiki, Brahim T., Finsterer, Josef, Al-Hashem, Amal, Bohlega, Saeed, Alazami, Anas M.
Publicado 2019

A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies

por Shaheen, Ranad, Schmidts, Miriam, Faqeih, Eissa, Hashem, Amal, Lausch, Ekkehart, Holder, Isabel, Superti-Furga, Andrea, Mitchison, Hannah M., Almoisheer, Agaadir, Alamro, Rana, Alshiddi, Tarfa, Alzahrani, Fatma, Beales, Philip L., Alkuraya, Fowzan S.
Publicado 2015

Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families

por Shamseldin, Hanan E., Tulbah, Maha, Kurdi, Wesam, Nemer, Maha, Alsahan, Nada, Al Mardawi, Elham, Khalifa, Ola, Hashem, Amal, Kurdi, Ahmed, Babay, Zainab, Bubshait, Dalal K., Ibrahim, Niema, Abdulwahab, Firdous, Rahbeeni, Zuhair, Hashem, Mais, Alkuraya, Fowzan S.
Publicado 2015

Epilepsy, neuropsychiatric phenotypes, neuroimaging findings, and genotype-neurophenotype correlation in 22q11.2 deletion syndrome

por AlKalaf, Heeba Y., AlHashem, Amal M., AlSaleh, Norah S., AlJohar, Norah M., Abo Thneen, Aliyah M., ElGhezal, Hatem M., Bouhjar, Inesse B., Tlili-Graiess, Kalthoum, Sahari, Atif H., Tabarki, Brahim M.
Publicado 2020

Characterizing the morbid genome of ciliopathies

por Shaheen, Ranad, Szymanska, Katarzyna, Basu, Basudha, Patel, Nisha, Ewida, Nour, Faqeih, Eissa, Al Hashem, Amal, Derar, Nada, Alsharif, Hadeel, Aldahmesh, Mohammed A., Alazami, Anas M., Hashem, Mais, Ibrahim, Niema, Abdulwahab, Firdous M., Sonbul, Rawda, Alkuraya, Hisham, Alnemer, Maha, Al Tala, Saeed, Al-Husain, Muneera, Morsy, Heba, Seidahmed, Mohammed Zain, Meriki, Neama, Al-Owain, Mohammed, AlShahwan, Saad, Tabarki, Brahim, Salih, Mustafa A., Faquih, Tariq, El-Kalioby, Mohamed, Ueffing, Marius, Boldt, Karsten, Logan, Clare V., Parry, David A., Al Tassan, Nada, Monies, Dorota, Megarbane, Andre, Abouelhoda, Mohamed, Halees, Anason, Johnson, Colin A., Alkuraya, Fowzan S.
Publicado 2016

Autozygome and high throughput confirmation of disease genes candidacy

por Maddirevula, Sateesh, Alzahrani, Fatema, Al-Owain, Mohammed, Al Muhaizea, Mohammad A., Kayyali, Husam R., AlHashem, Amal, Rahbeeni, Zuhair, Al-Otaibi, Maha, Alzaidan, Hamad I., Balobaid, Ameera, El Khashab, Heba Y., Bubshait, Dalal K., Faden, Maha, Yamani, Suad Al, Dabbagh, Omar, Al-Mureikhi, Mariam, Jasser, Abdulla Al, Alsaif, Hessa S., Alluhaydan, Iram, Seidahmed, Mohammed Zain, Alabbasi, Bashair Hamza, Almogarri, Ibrahim, Kurdi, Wesam, Akleh, Hana, Qari, Alya, Al Tala, Saeed M., Alhomaidi, Suzan, Kentab, Amal Y., Salih, Mustafa A., Chedrawi, Aziza, Alameer, Seham, Tabarki, Brahim, Shamseldin, Hanan E., Patel, Nisha, Ibrahim, Niema, Abdulwahab, Firdous, Samira, Menasria, Goljan, Ewa, Abouelhoda, Mohamed, Meyer, Brian F., Hashem, Mais, Shaheen, Ranad, AlShahwan, Saad, Alfadhel, Majid, Ben-Omran, Tawfeg, Al-Qattan, Mohammad M., Monies, Dorota, Alkuraya, Fowzan S.
Publicado 2018