Congenital anomalies and associated risk factors in a Saudi population: a cohort study from pregnancy to age 2 years von 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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Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome von 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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Effect of consanguinity on birth defects in Saudi women: Results from a nested case-control study von Majeed-Saidan, Muhammad Ali, Ammari, Amer N., AlHashem, Amal M., Al Rakaf, Maha S., Shoukri, Mohamed M., Garne, Ester, Kurdi, Ahmed Mohammed

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Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia. A 6-year study von 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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Biallelic ZNFX1 variants are associated with a spectrum of immuno‐hematological abnormalities von Alawbathani, Salem, Westenberger, Ana, Ordonez‐Herrera, Natalia, Al‐Hilali, Mariam, Al Hebby, Homoud, Alabbas, Fahad, Alhashem, Amal M., Elyamany, Ghaleb, Megarbane, André, Kose, Melis, Alhashmi, Nadia, Al Sukaiti, Nashat, Al‐Raqad, Mohammed, Al‐Tawalbeh, Samah, Abu Adas Blanco, Omar, Alkhattabi, Fadiah, Sng, Danielle, Al‐Ali, Ruslan, Khan, Suliman, Tawamie, Hasan, Tripolszki, Kornelia, Karageorgou, Vasiliki, Trunzo, Roberta, Al Mutairi, Fuad, Reversade, Bruno, Bauer, Peter, Bertoli‐Avella, Aida M.

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

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The genotypic and phenotypic spectrum of pycnodysostosis in Saudi Arabia: Novel variants and clinical findings von Mushiba, Aziza M., FAQEIH, EISSA, Saleh, Mohammed A., Ramzan, Khushnooda, Imtiaz, Faiqa, Al‐Owain, Mohammed, Alhashem, Amal M., Alswaid, Abdulrahman

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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 von Alhashem, Amal M., Salih, Rihab M., Al-Aqeel, Aida I., Mohamed, Sarar

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A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia von Yüksel, Zafer, Vogel, Florian, Alhashem, Amal M., Alanzi, Talal S.A., Tabarki, Brahim, Kampe, Kapil, Kandaswamy, Krishna K., Werber, Martin, Bertoli‐Avella, Aida M., Beetz, Christian, Rolfs, Arndt, Bauer, Peter

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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 von Alhashem, Amal M, Almohaid, Manal S, Alanazi, Lina, Alhabardi, Hedayah

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Epilepsy, neuropsychiatric phenotypes, neuroimaging findings, and genotype-neurophenotype correlation in 22q11.2 deletion syndrome von 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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Crisponi/CISS1 syndrome: A case series von Alhashem, Amal M., Majeed-Saidan, Muhammad Ali, Ammari, Amer N., Alrakaf, Maha S., Nojoom, Maha, Maddirevula, Sateesh, Faqeih, Eissa, Alkuraya, Fowzan S., Garne, Ester, Kurdi, Ahmad M.

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

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

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Patterns, prevalence, risk factors, and survival of newborns with congenital heart defects in a Saudi population: a three-year, cohort case-control study von Majeed-Saidan, Muhammad Ali, Atiyah, Merna, Ammari, Amer N., AlHashem, Amal M., Rakaf, Maha S., Shoukri, Mohamed M., Garne, Ester, Kurdi, Ahmed M.

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Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy von Marafi, Dana, Fatih, Jawid M, Kaiyrzhanov, Rauan, Ferla, Matteo P, Gijavanekar, Charul, Al-Maraghi, Aljazi, Liu, Ning, Sites, Emily, Alsaif, Hessa S, Al-Owain, Mohammad, Zakkariah, Mohamed, El-Anany, Ehab, Guliyeva, Ulviyya, Guliyeva, Sughra, Gaba, Colette, Haseeb, Ateeq, Alhashem, Amal M, Danish, Enam, Karageorgou, Vasiliki, Beetz, Christian, Subhi, Alaa A, Mullegama, Sureni V, Torti, Erin, Sebastin, Monisha, Breilyn, Margo Sheck, Duberstein, Susan, Abdel-Hamid, Mohamed S, Mitani, Tadahiro, Du, Haowei, Rosenfeld, Jill A, Jhangiani, Shalini N, Coban Akdemir, Zeynep, Gibbs, Richard A, Taylor, Jenny C, Fakhro, Khalid A, Hunter, Jill V, Pehlivan, Davut, Zaki, Maha S, Gleeson, Joseph G, Maroofian, Reza, Houlden, Henry, Posey, Jennifer E, Sutton, V Reid, Alkuraya, Fowzan S, Elsea, Sarah H, Lupski, James R

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Fructose-1,6-bisphosphatase deficiency with confirmed molecular diagnosis von Salih, Rihab M, Mohammed, Esraa A, Alhashem, Amal M, Sarar, Mohamed, Al-aqeel, Aida I

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Peripheral venous route for administration of ammonul infusion for treatment of acute hyperammonemia von Alhashem, Amal M, Salih, Rihab M, Al-Aqeel, Aida I, Sarar, Mohamed

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

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Neuroregression, coarse features, and oligosaccharides in urines von BoAli, Ahmed, Tlili-Graiess, Kalthoum, AlHashem, Amal, Tabarki, Brahim

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