Mental Retardation, Growth Retardation, Unusual Nose, and Open Mouth: An Autosomal Recessive EntityALKURAYA, Fowzan S.American journal of medical genetics. Part A. 2010, Vol 152, Num 9, pp 2160-2163, issn 1552-4825, 4 p.Article

Arthrogryposis, Perthes Disease, and Upward Gaze Palsy: A Novel Autosomal Recessive Syndromic Form of ArthrogryposisALKURAYA, Fowzan S.American journal of medical genetics. Part A. 2011, Vol 155, Num 2, pp 297-300, issn 1552-4825, 4 p.Article

Attitude of Saudi families affected with hemoglobinopathies towards prenatal screening and abortion and the influence of religious ruling (Fatwa)ALKURAYA, Fowzan S; KILANI, Ramzi A.Prenatal diagnosis. 2001, Vol 21, Num 6, pp 448-451, issn 0197-3851Article

Expanding the E in CHARGEALAZAMI, Anas M; MZAHRANI, Fatema; ALKURAYA, Fowzan S et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 14, pp 1890-1892, issn 1552-4825, 3 p.Article

Trisomy 8 mosaicism in a patient with heterotaxiaALKURAYA, Fowzan S; HARRIS, David J.Birth defects research. Clinical and molecular teratology. 2005, Vol 73, Num 1, pp 58-60, issn 1542-0752, 3 p.Article

Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutationSHAMSELDIN, Hanan E; ELFAKI, Mohamed; ALKURAYA, Fowzan S et al.Journal of medical genetics. 2012, Vol 49, Num 3, pp 184-186, issn 0022-2593, 3 p.Article

'Cone dystrophy with supranormal rod response' in childrenKHAN, Arif O; ALRASHED, May; ALKURAYA, Fowzan S et al.British journal of ophthalmology. 2012, Vol 96, Num 3, pp 422-426, issn 0007-1161, 5 p.Article

Perturbation of the Consensus Activation Site of Endothelin-3 Leads to Waardenburg Syndrome Type IVSHAMSELDIN, Hanan E; RAHBEENI, Zuhair; ALKURAYA, Fowzan S et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 7, pp 1841-1843, issn 1552-4825, 3 p.Article

Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve―Melchior―Clausen locusALSHAMMARI, Muneera J; AL-OTAIBI, Lefian; ALKURAYA, Fowzan S et al.Journal of medical genetics. 2012, Vol 49, Num 7, pp 455-461, issn 0022-2593, 7 p.Article

Mutation of CANT1 Causes Desbuquois DysplasiaFADEN, Maha; AL-ZAHRANI, Fatema; ARAFAH, Dia et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 5, pp 1157-1160, issn 1552-4825, 4 p.Article

Clinical and molecular analysis of children with central pulverulent cataract from the Arabian PeninsulaKHAN, Arif O; ALDAHMESH, Mohammed A; MOHAMED, Jawahir Y et al.British journal of ophthalmology. 2012, Vol 96, Num 5, pp 650-655, issn 0007-1161, 6 p.Article

Tufting Enteropathy and Chronic Arthritis: A Newly Recognized Association With a Novel EpCAM Gene MutationAL-MAYOUF, Sulaiman M; ALSWAIED, Nahla; ALKURAYA, Fowzan S et al.Journal of pediatric gastroenterology and nutrition. 2009, Vol 49, Num 5, pp 642-644, issn 0277-2116, 3 p.Article

Blue Sclera With and Without Corneal Fragility (Brittle Cornea Syndrome) in a Consanguineous Family Harboring ZNE469 Mutation (p.E1392X)KHAN, Arif O; ALDAHMESH, Mohammed A; MOHAMED, Jawahir N et al.Archives of ophthalmology (1960). 2010, Vol 128, Num 10, pp 1376-1379, issn 0003-9950, 4 p.Article

Novel CENPJ mutation causes Seckel syndromeAL-DOSARI, Mohammed S; SHAHEEN, Ranad; COLAK, Dilek et al.Journal of medical genetics. 2010, Vol 47, Num 6, pp 411-414, issn 0022-2593, 4 p.Article

Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformationSHAMSELDIN, Hanan E; FADEN, Maha A; ALASHRAM, Walid et al.Journal of medical genetics. 2012, Vol 49, Num 1, pp 16-20, issn 0022-2593, 5 p.Article

A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18)ALAZAMI, Anas M; ADLY, Nouran; AL DHALAAN, Hisham et al.Neurogenetics (Oxford. Print). 2011, Vol 12, Num 4, pp 333-336, issn 1364-6745, 4 p.Article

Helicoid Subretinal Fibrosis Associated With a Novel Recessive NR2E3 Mutation p.S44XKHAN, Arif O; ALDAHMESH, Mohammed A; AL-HARTHI, Essam et al.Archives of ophthalmology (1960). 2010, Vol 128, Num 3, pp 344-348, issn 0003-9950, 5 p.Article

Mutational Spectrum of SLC4A11 in Autosomal Recessive CHED in Saudi ArabiaALDAHMESH, Mohammed A; KHAN, Arif O; MEYER, Brian F et al.Investigative ophthalmology & visual science. 2009, Vol 50, Num 9, pp 4142-4145, issn 0146-0404, 4 p.Article

Fryns syndrome with hirschsprung disease : Support for possible neural crest involvementALKURAYA, Fowzan S; LIN, Angela E; IRONS, Mira B et al.American journal of medical genetics. 2005, Vol 132A, Num 2, pp 226-230, issn 0148-7299, 5 p.Article

Smith-Lemli-Opitz syndrome in trisomy 13 : How does the mix work?ALKURAYA, Fowzan S; PICKER, Jonathan; IRONS, Mira B et al.Birth defects research. Clinical and molecular teratology. 2005, Vol 73, Num 8, pp 569-571, issn 1542-0752, 3 p.Article

Mutations in FKBP10 Cause Both Bruck Syndrome and Isolated Osteogenesis Imperfecta in HumansSHAHEEN, Ranad; AL-OWAIN, Mohammed; FAQEIH, Eissa et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 6, pp 1448-1452, issn 1552-4825, 5 p.Article

NR2F1 Deletion in a Patient With a de novo Paracentric Inversion, inv(5)(q15q33.2), and Syndromic DeafnessBROWN, Kerry K; ALKURAYA, Fowzan S; MATOS, Michael et al.American journal of medical genetics. Part A. 2009, Vol 149, Num 5, pp 931-938, issn 1552-4825, 8 p.Article

Functional analysis of BBS3 A89V that results in non-syndromic retinal degenerationPRETORIUS, Pamela R; ALDAHMESH, Mohammed A; ALKURAYA, Fowzan S et al.Human molecular genetics (Print). 2011, Vol 20, Num 8, pp 1625-1632, issn 0964-6906, 8 p.Article

Johanson-Blizzard Syndrome : Report of a Novel Mutation and Severe Liver InvolvementAL-DOSARI, Mohammed S; AL-MUHSEN, Saleh; AL-JAZAERI, Ayman et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 14, pp 1875-1879, issn 1552-4825, 5 p.Article

Congenital Disorder of Glycosylation Ila: The Trouble With Diagnosing a Dysmorphic Inborn Error of MetabolismALAZAMI, Anas M; MONIES, Dorota; MEYER, Brian F et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 1, pp 245-246, issn 1552-4825, 2 p.Article