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Drug treatment of inborn errors of metabolism: a systematic reviewALFADHEL, Majid; AL-THIHLI, Khalid; MOUBAYED, Hiba et al.Archives of disease in childhood. 2013, Vol 98, Num 6, pp 454-461, issn 0003-9888, 8 p.Article

A Novel Homozygous Missense Mutation (c.610G>A, p.Gly204Ser) in the WNT7A Gene Causes Tetra-amelia in Two Saudi FamiliesEYAID, Wafaa; AL-QATTAN, Mohammad M; AL ABDULKAREEM, Ibrahim et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 3, pp 599-604, issn 1552-4825, 6 p.Article

Identification and functional analysis of a defect in the human ALG9 gene: Definition of congenital disorder of glycosylation type ILFRANK, Christian G; GRUBENMANN, Claudia E; EYAID, Wafaa et al.American journal of human genetics. 2004, Vol 75, Num 1, pp 146-150, issn 0002-9297, 5 p.Article

An inborn error of metabolism presenting as hypoxic-ischemic insultEYAID, Wafaa M; AL-NOURI, Doha M; RASHED, Mohamed S et al.Pediatric neurology. 2005, Vol 32, Num 2, pp 134-136, issn 0887-8994, 3 p.Article

Mutations in PNKP cause microcephaly, seizures and defects in DNA repairJUN SHEN; GILMORE, Edward C; GANESH, Vijay S et al.Nature genetics. 2010, Vol 42, Num 3, pp 245-249, issn 1061-4036, 5 p.Article

The genetic basis of a craniofacial disease provides insight into COPII coat assemblyFROMME, J. Christopher; RAVAZZOLA, Mariella; HAMAMOTO, Susan et al.Developmental cell. 2007, Vol 13, Num 5, pp 623-636, issn 1534-5807, 14 p.Article

Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi traffickingBOYADJIEV, Simeon A; FROMME, J. Christopher; ORCI, Lelio et al.Nature genetics. 2006, Vol 38, Num 10, pp 1192-1197, issn 1061-4036, 6 p.Article

Transaldolase deficiency: report of 12 new cases and further delineation of the phenotypeEYAID, Wafaa; AL HARBI, Talal; ANAZI, Shamsa et al.Journal of inherited metabolic disease. 2013, Vol 36, Num 6, pp 997-1004, issn 0141-8955, 8 p.Article

LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz SyndromeYUN LI; PAWLIK, Barbara; URQUHART, Jill et al.American journal of human genetics. 2010, Vol 86, Num 5, pp 696-706, issn 0002-9297, 11 p.Article

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndromeLEITCH, Carmen C; ZAGHLOUL, Norann A; DOLLFUS, Helene et al.Nature genetics. 2008, Vol 40, Num 4, pp 443-448, issn 1061-4036, 6 p.Article

A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21BOYADJIEV, Simeon A; JUSTICE, Cristina M; EYAID, Wafaa et al.Human genetics. 2003, Vol 113, Num 1, pp 1-9, issn 0340-6717, 9 p.Article

Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndromeCURRIER, Sophie C; LEE, Christine K; DOBYNS, William B et al.American journal of medical genetics. 2005, Vol 133A, Num 1, pp 53-57, issn 0148-7299, 5 p.Article

Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg SyndromeCHIARA MANZINI, M; TAMBUNAN, Dimira E; RODRIGUEZ, Jacqueline et al.American journal of human genetics. 2012, Vol 91, Num 3, pp 541-547, issn 0002-9297, 7 p.Article