Hakutulokset - Hashem, Amal

The fragile site WWOX gene and the developing brain Tekijä Tabarki, Brahim, Al Mutairi, Fuad, Al Hashem, Amal

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A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing Tekijä Alonazi, Noufa A., Hundallah, Khalid J., Al Hashem, Amal M., Mohamed, Sarar

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PRUNE Syndrome Is a New Neurodevelopmental Disorder: Report and Review Tekijä Alfadhel, Majid, Nashabat, Marwan, Hundallah, Khalid, Al Hashem, Amal, Alrumayyan, Ahmed, Tabarki, Brahim

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Neurological expression of an inherited translocation of chromosomal 1 and 7 Tekijä AlMajhad, Nabil A., AlHashem, Amal M., Bouhjar, Inesse A., Tabarki, Brahim M.

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Neuroregression, coarse features, and oligosaccharides in urines Tekijä BoAli, Ahmed Y., Tlili-Graiess, Kalthoum, AlHashem, Amal M., Tabarki, Brahim M.

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Biodegradation of feather waste by keratinase produced from newly isolated Bacillus licheniformis ALW1 Tekijä Abdel-Fattah, Azza M., El-Gamal, Mamdouh S., Ismail, Siham A., Emran, Mohamed A., Hashem, Amal M.

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Further Delineation of the ALG9-CDG Phenotype Tekijä AlSubhi, Sarah, AlHashem, Amal, AlAzami, Anas, Tlili, Kalthoum, AlShahwan, Saad, Lefeber, Dirk, Alkuraya, Fowzan S., Tabarki, Brahim

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Congenital anomalies and associated risk factors in a Saudi population: a cohort study from pregnancy to age 2 years Tekijä Kurdi, Ahmed M, Majeed-Saidan, Muhammad Ali, Al Rakaf, Maha S, AlHashem, Amal M, Botto, Lorenzo D, Baaqeel, Hassan S, Ammari, Amer N

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

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

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

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

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Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG Tekijä Alsharhan, Hind, Ng, Bobby G., Daniel, Earnest James Paul, Friedman, Jennifer, Pivnick, Eniko K., Al-Hashem, Amal, Faqeih, Eissa Ali, Liu, Pengfei, Engelhardt, Nicole M., Keller, Kierstin N., Chen, Jie, Mazzeo, Pamela A., Rosenfeld, Jill A., Bamshad, Michael J., Nickerson, Deborah A., Raymond, Kimiyo M., Freeze, Hudson H., He, Miao, Edmondson, Andrew C., Lam, Christina

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In search of triallelism in Bardet–Biedl syndrome Tekijä Abu-Safieh, Leen, Al-Anazi, Shamsa, Al-Abdi, Lama, Hashem, Mais, Alkuraya, Hisham, Alamr, Mushari, Sirelkhatim, Mugtaba O, Al-Hassnan, Zuhair, Alkuraya, Basim, Mohamed, Jawahir Y, Al-Salem, Ahmad, Alrashed, May, Faqeih, Eissa, Softah, Ameen, Al-Hashem, Amal, Wali, Sami, Rahbeeni, Zuhair, Alsayed, Moeen, Khan, Arif O, Al-Gazali, Lihadh, Taschner, Peter EM, Al-Hazzaa, Selwa, Alkuraya, Fowzan S

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Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy Tekijä Gupta, Vandana A., Ravenscroft, Gianina, Shaheen, Ranad, Todd, Emily J., Swanson, Lindsay C., Shiina, Masaaki, Ogata, Kazuhiro, Hsu, Cynthia, Clarke, Nigel F., Darras, Basil T., Farrar, Michelle A., Hashem, Amal, Manton, Nicholas D., Muntoni, Francesco, North, Kathryn N., Sandaradura, Sarah A., Nishino, Ichizo, Hayashi, Yukiko K., Sewry, Caroline A., Thompson, Elizabeth M., Yau, Kyle S., Brownstein, Catherine A., Yu, Timothy W., Allcock, Richard J.N., Davis, Mark R., Wallgren-Pettersson, Carina, Matsumoto, Naomichi, Alkuraya, Fowzan S., Laing, Nigel G., Beggs, Alan H.

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Characterizing the morbid genome of ciliopathies Tekijä 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.

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Autozygome and high throughput confirmation of disease genes candidacy Tekijä 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.

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TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities Tekijä Vandervore, Laura V., Schot, Rachel, Milanese, Chiara, Smits, Daphne J., Kasteleijn, Esmee, Fry, Andrew E., Pilz, Daniela T., Brock, Stefanie, Börklü-Yücel, Esra, Post, Marco, Bahi-Buisson, Nadia, Sánchez-Soler, María José, van Slegtenhorst, Marjon, Keren, Boris, Afenjar, Alexandra, Coury, Stephanie A., Tan, Wen-Hann, Oegema, Renske, de Vries, Linda S., Fawcett, Katherine A., Nikkels, Peter G.J., Bertoli-Avella, Aida, Al Hashem, Amal, Alwabel, Abdulmalik A., Tlili-Graiess, Kalthoum, Efthymiou, Stephanie, Zafar, Faisal, Rana, Nuzhat, Bibi, Farah, Houlden, Henry, Maroofian, Reza, Person, Richard E., Crunk, Amy, Savatt, Juliann M., Turner, Lisbeth, Doosti, Mohammad, Karimiani, Ehsan Ghayoor, Saadi, Nebal Waill, Akhondian, Javad, Lequin, Maarten H., Kayserili, Hülya, van der Spek, Peter J., Jansen, Anna C., Kros, Johan M., Verdijk, Robert M., Milošević, Nataša Jovanov, Fornerod, Maarten, Mastroberardino, Pier Giorgio, Mancini, Grazia M.S.

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