Expanding the phenotype, genotype and biochemical knowledge of ALG3‐CDG
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
Published in Journal of inherited metabolic disease (01.07.2021)
Published in Journal of inherited metabolic disease (01.07.2021)
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Journal Article
Characterizing the morbid genome of ciliopathies
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
Published in Genome Biology (28.11.2016)
Published in Genome Biology (28.11.2016)
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Journal Article
The fragile site WWOX gene and the developing brain
Tabarki, Brahim, Al Mutairi, Fuad, Al Hashem, Amal
Published in Experimental biology and medicine (Maywood, N.J.) (01.03.2015)
Published in Experimental biology and medicine (Maywood, N.J.) (01.03.2015)
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Journal Article
Patterns of folic acid use in pregnant Saudi women and prevalence of neural tube defects — Results from a nested case–control study
Al Rakaf, Maha S, Kurdi, Ahmed M, Ammari, Amer N, Al Hashem, Amal M, Shoukri, Mohamed M, Garne, Ester, Majeed-Saidan, Muhammad Ali
Published in Preventive medicine reports (2015)
Published in Preventive medicine reports (2015)
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Journal Article
The prevalence and phenotypic range associated with biallelic PKDCC variants
Pagnamenta, Alistair T., Belles, Rebecca S., Salbert, Bonnie Anne, Wentzensen, Ingrid M., Guillen Sacoto, Maria J., Santos, Francis Jeshira Reynoso, Caffo, Alesky, Ferla, Matteo, Banos‐Pinero, Benito, Pawliczak, Karolina, Makvand, Mina, Najmabadi, Hossein, Maroofian, Reza, Lester, Tracy, Yanez‐Felix, Ana Lucia, Villarroel‐Cortes, Camilo E., Xia, Fan, Al Fayez, Khowla, Al Hashem, Amal, Shears, Deborah, Irving, Melita, Offiah, Amaka C., Kariminejad, Ariana, Taylor, Jenny C.
Published in Clinical genetics (01.07.2023)
Published in Clinical genetics (01.07.2023)
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Journal Article
Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia
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
Published in BMC medical genetics (04.07.2019)
Published in BMC medical genetics (04.07.2019)
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Journal Article
Positional mapping of PRKD1, NRP1 and PRDM1 as novel candidate disease genes in truncus arteriosus
Shaheen, Ranad, Al Hashem, Amal, Alghamdi, Mohammed H, Seidahmad, Mohammed Zain, Wakil, Salma M, Dagriri, Khalid, Keavney, Bernard, Goodship, Judith, Alyousif, Saad, Al-Habshan, Fahad M, Alhussein, Khalid, Almoisheer, Agaadir, Ibrahim, Niema, Alkuraya, Fowzan S
Published in Journal of medical genetics (01.05.2015)
Published in Journal of medical genetics (01.05.2015)
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Journal Article
In search of triallelism in Bardet-Biedl syndrome
ABU-SAFIEH, Leen, AL-ANAZI, Shamsa, AL-SALEM, Ahmad, ALRASHED, May, FAQEIH, Eissa, SOFTAH, Ameen, AL-HASHEM, Amal, WALI, Sami, RAHBEENI, Zuhair, ALSAYED, Moeen, KHAN, Arif O, AL-GAZALI, Lihadh, AL-ABDI, Lama, TASCHNER, Peter Em, AL-HAZZAA, Selwa, ALKURAYA, Fowzan S, HASHEM, Mais, ALKURAYA, Hisham, ALAMR, Mushari, SIRELKHATIM, Mugtaba O, AL-HASSNAN, Zuhair, ALKURAYA, Basim, MOHAMED, Jawahir Y
Published in European journal of human genetics : EJHG (01.04.2012)
Published in European journal of human genetics : EJHG (01.04.2012)
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Journal Article
Clinical Profile and Mutation Spectrum of Long QT Syndrome in Saudi Arabia: The Impact of Consanguinity
Al-Hassnan, Zuhair N., MD, Al-Fayyadh, Majid, MD, Al-Ghamdi, Bander, MD, Shafquat, Azam, MD, Mallawi, Yaseen, MD, Al-Hadeq, Faten, BA, Tulbah, Sahar, MS, Shinwari, Zarghuna MA., MS, Almesned, Abdulrahman, MD, Alakhfash, Ali, MD, Al Fadly, Fadel, MD, Hersi, Ahmed S., MD, Alhayani, Abdullah, MD, Al-Hashem, Amal, MD, Arafah, Dia, MD, Dzimiri, Nduna, PhD, Meyer, Brian, PhD, Rababh, Monther, BA, Al-Manea, Waleed, MD
Published in Heart rhythm (01.08.2017)
Published in Heart rhythm (01.08.2017)
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Journal Article
Vici syndrome associated with unilateral lung hypoplasia and myopathy
Al-Owain, Mohammed, Al-Hashem, Amal, Al-Muhaizea, Mohammed, Humaidan, Hani, Al-Hindi, Hindi, Al-Homoud, Iftetah, Al-Mogarri, Ibrahim
Published in American journal of medical genetics. Part A (01.07.2010)
Published in American journal of medical genetics. Part A (01.07.2010)
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Journal Article
PRUNE Syndrome Is a New Neurodevelopmental Disorder
Alfadhel Majid, Nashabat Marwan, Hundallah Khalid, Al Hashem Amal, Alrumayyan Ahmed, Tabarki Brahim
Published in Child neurology open (01.01.2018)
Published in Child neurology open (01.01.2018)
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Journal Article
Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery
Scott, Eric M, Halees, Anason, Itan, Yuval, Spencer, Emily G, He, Yupeng, Azab, Mostafa Abdellateef, Gabriel, Stacey B, Belkadi, Aziz, Boisson, Bertrand, Abel, Laurent, Clark, Andrew G, Alkuraya, Fowzan S, Casanova, Jean-Laurent, Gleeson, Joseph G
Published in Nature genetics (01.09.2016)
Published in Nature genetics (01.09.2016)
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Journal Article
Sotos Syndrome: Deep Neuroimaging Phenotyping Reveals a High Prevalence of Malformations of Cortical Development
Neeman, Bar, Sudhakar, Sniya, Biswas, Asthik, Rosenblum, Jessica, Sidpra, Jai, D'Arco, Felice, Löbel, Ulrike, Gómez-Chiari, Marta, Serrano, Mercedes, Bolasell, Mercè, Reddy, Kartik, Ben-Sira, Liat, Zakzouk, Reem, Al-Hashem, Amal, Mirsky, David M, Patel, Rajan, Radhakrishnan, Rupa, Shekdar, Karuna, Whitehead, Matthew T, Mankad, Kish
Published in American journal of neuroradiology : AJNR (03.10.2024)
Published in American journal of neuroradiology : AJNR (03.10.2024)
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Journal Article
A wide clinical phenotype spectrum in patients with ATP1A2 mutations
Al-Bulushi, Bashaer, Al-Hashem, Amal, Tabarki, Brahim
Published in Journal of child neurology (01.02.2014)
Published in Journal of child neurology (01.02.2014)
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Journal Article
The landscape of early infantile epileptic encephalopathy in a consanguineous population
Nashabat, Marwan, Al Qahtani, Xena S., Almakdob, Salwa, Altwaijri, Waleed, Ba-Armah, Duaa M., Hundallah, Khalid, Al Hashem, Amal, Al Tala, Saeed, Maddirevula, Sateesh, Alkuraya, Fowzan S., Tabarki, Brahim, Alfadhel, Majid
Published in Seizure (London, England) (01.07.2019)
Published in Seizure (London, England) (01.07.2019)
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Journal Article
TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities
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.
Published in American journal of human genetics (05.12.2019)
Published in American journal of human genetics (05.12.2019)
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Journal Article
Munchausen syndrome by proxy mimicking as Gaucher disease
Al-Owain, Mohammed, Al-Zaidan, Hamad, Al-Hashem, Amal, Kattan, Hoda, Al-Dowaish, Abdullah
Published in European journal of pediatrics (01.08.2010)
Published in European journal of pediatrics (01.08.2010)
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