Search Results - Alhashem, Amal

Proteus syndrome caused by novel somatic AKT1 duplication by AlAnzi, Talal, Al-mashharawi, Eman, Alhashem, Amal

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Intellectual Disability in Two Brothers Caused by De Novo Novel Unbalanced Translocation (13;18) (q34,q23) and De Novo Microdeletion 6q25 Syndrome by Alhashem, Amal M, Almohaid, Manal S, Alanazi, Lina, Alhabardi, Hedayah

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Distal acroosteolysis, poikiloderma and joint stiffness: a novel laminopathy? by Sewairi, Wafaa, Assiri, Abdulrahman, Patel, Nisha, Alhashem, Amal, Alkuraya, Fowzan S

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A de novo splicing variant supports the candidacy of TLL1 in ASD pathogenesis by Alanzi, Talal, Alhashem, Amal, Dagriri, Khalid, Alzahrani, Fatema, Alkuraya, Fowzan S.

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Peripheral venous route for administration of ammonul infusion for treatment of acute hyperammonemia: An experience from a tertiary center in Saudi Arabia by Alhashem, Amal M., Salih, Rihab M., Al-Aqeel, Aida I., Mohamed, Sarar

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Molecular and clinical characteristics of very long-chain acyl-CoA dehydrogenase deficiency: A single-center experience in Saudi Arabia by Alhashem, Amal, Mohamed, Sarar, Abdelraheem, Manal, AlGufaydi, Bushra, Al-Aqeel, Aida

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Progressive symmetrical erythrokeratoderma manifesting as harlequin-like ichthyosis with severe thrombocytopenia secondary to a homozygous 3-ketodihydrosphingosine reductase mutati... by Altawil, Lama, Alshihry, Hind, Alfaraidi, Huda, Alhashem, Amal, Alhumidi, Ahmed, Alkuraya, Fowzan S.

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Fructose-1,6-bisphosphatase deficiency with confirmed molecular diagnosis: An important cause of hypoglycemia in children by Salih, Rihab M., Mohammed, Esraa A., Alhashem, Amal M., Mohamed, Sarar, Al-aqeel, Aida I.

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A Biallelic Variant in FRA10AC1 Is Associated With Neurodevelopmental Disorder and Growth Retardation by Alsaleh, Norah, Alhashem, Amal, Tabarki, Brahim, Mohamed, Sarar, Alharby, Essa, Alkuraya, Fowzan S., Almontashiri, Naif A.M.

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The phenotypic spectrum of dihydrolipoamide dehydrogenase deficiency in Saudi Arabia by Alfarsi, Anar, Alfadhel, Majid, Alameer, Seham, Alhashem, Amal, Tabarki, Brahim, Ababneh, Faroug, Al Fares, Ahmed, Al Mutairi, Fuad

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Mutations in DDX59 Implicate RNA Helicase in the Pathogenesis of Orofaciodigital Syndrome by Shamseldin, Hanan E., Rajab, Anna, Alhashem, Amal, Shaheen, Ranad, Al-Shidi, Tarfa, Alamro, Rana, Al Harassi, Salma, Alkuraya, Fowzan S.

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Molecular autopsy by proxy in preconception counseling by Ali Alghamdi, Malak, Alrasheedi, Ameinah, Alghamdi, Esra, Adly, Nouran, AlAali, Wajeih Y., Alhashem, Amal, Alshahrani, Abdulaziz, Shamseldin, Hanan, Alkuraya, Fowzan S., Alfadhel, Majid

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Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia: A 6-year study by Mohamed, Sarar, Elsheikh, Wafa, Al-Aqeel, Aida I., Alhashem, Amal M., Alodaib, Ali, Alahaideb, Lujane, Almashary, Maher, Alharbi, Fahad, AlMalawi, Horia, Ammari, Amer, Almohaimeed, Sulaiman

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Neu-Laxova Syndrome, an Inborn Error of Serine Metabolism, Is Caused by Mutations in PHGDH by Shaheen, Ranad, Rahbeeni, Zuhair, Alhashem, Amal, Faqeih, Eissa, Zhao, Qi, Xiong, Yong, Almoisheer, Agaadir, Al-Qattan, Sarah M., Almadani, Halima A., Al-Onazi, Noufa, Al-Baqawi, Badi S., Saleh, Mohammad Ali, Alkuraya, Fowzan S.

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Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly by Drissi, Ichrak, Fletcher, Emily, Shaheen, Ranad, Nahorski, Michael, Alhashem, Amal M, Lisgo, Steve, Fernández-Jaén, Alberto, Schon, Katherine, Tlili-Graiess, Kalthoum, Smithson, Sarah F, Lindsay, Susan, J Sharpe, Hayley, Alkuraya, Fowzan S, Woods, Geoff

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IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet–Biedl syndrome by Aldahmesh, Mohammed A., Li, Yuanyuan, Alhashem, Amal, Anazi, Shams, Alkuraya, Hisham, Hashem, Mais, Awaji, Ali A., Sogaty, Sameera, Alkharashi, Abdullah, Alzahrani, Saeed, Al Hazzaa, Selwa A., Xiong, Yong, Kong, Shanshan, Sun, Zhaoxia, Alkuraya, Fowzan S.

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Recurrent Homozygous Damaging Mutation in TMX2, Encoding a Protein Disulfide Isomerase, in Four Families with Microlissencephaly by Ghosh, Shereen G., Wang, Lu, Breuss, Martin W., Green, Joshua D., Stanley, Valentina, Yang, Xiaoxu, Ross, Danica, Traynor, Bryan J., Alhashem, Amal, Azam, Matloob, Selim, Laila, Bastaki, Laila, Elbastawisy, Hanan I., Temtamy, Samia, Zaki, Maha S., Gleeson, Joseph G.

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Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome by Cozma, Claudia, Hovakimyan, Marina, Iurașcu, Marius-Ionuț, Makhseed, Nawal, Selim, Laila A., Alhashem, Amal M., Ben-Omran, Tawfeg, Mahmoud, Iman G., Al Menabawy, Nihal M., Al-Mureikhi, Mariam, Martin, Magi, Demuth, Laura, Yüksel, Zafer, Beetz, Christian, Bauer, Peter, Rolfs, Arndt

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ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition by Alkanderi, Sumaya, Molinari, Elisa, Shaheen, Ranad, Elmaghloob, Yasmin, Stephen, Louise A., Sammut, Veronica, Ramsbottom, Simon A., Srivastava, Shalabh, Cairns, George, Edwards, Noel, Rice, Sarah J., Ewida, Nour, Alhashem, Amal, White, Kathryn, Miles, Colin G., Steel, David H., Alkuraya, Fowzan S., Ismail, Shehab, Sayer, John A.

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Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics by Maddirevula, Sateesh, Kuwahara, Hiroyuki, Ewida, Nour, Shamseldin, Hanan E., Patel, Nisha, Alzahrani, Fatema, AlSheddi, Tarfa, AlObeid, Eman, Alenazi, Mona, Alsaif, Hessa S., Alqahtani, Maha, AlAli, Maha, Al Ali, Hatoon, Helaby, Rana, Ibrahim, Niema, Abdulwahab, Firdous, Hashem, Mais, Hanna, Nadine, Monies, Dorota, Derar, Nada, Alsagheir, Afaf, Alhashem, Amal, Alsaleem, Badr, Alhebbi, Hamoud, Wali, Sami, Umarov, Ramzan, Gao, Xin, Alkuraya, Fowzan S.

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