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Annals of Plastic Surgery|August 28, 2007
Congenital duplication of the palm syndromeM M Al-Qattan, Wafaa Eyaid, Mohammed Al-BalwiNeurosciences (Riyadh, Saudi Arabia)|July 10, 2012
Intracranial calcifications, microcephaly, and seizure. If not congenital infection, what could it be?Wafaa Eyaid, Ruqaiah S Al-Tassan, Doha M Al-NouriJournal of Medical Genetics|February 2, 2017
A missense mutation in the <i>CRBN</i> gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi familyAtia Sheereen, Manal Alaamery, Shahad Bawazeer, et al.Archives of Disease in Childhood|March 28, 2013
Drug treatment of inborn errors of metabolism: a systematic reviewMajid Alfadhel, Khalid Al-Thihli, Hiba Moubayed, et al.Annals of Saudi Medicine|September 25, 2013
Mucolipidosis II: first report from Saudi ArabiaMajid Alfadhel, Wafaa AlShehhi, Hesham Alshaalan, et al.American Journal of Medical Genetics. Part A|February 24, 2011
A novel homozygous missense mutation (c.610G>A, p.Gly204Ser) in the WNT7A gene causes tetra-amelia in two Saudi familiesWafaa Eyaid, Mohammad M Al-Qattan, Ibrahim Al Abdulkareem, et al.JIMD Reports|July 13, 2013
Pulmonary manifestations in a patient with transaldolase deficiencyNada Jassim, Mohammed Alghaihab, Suhail Al Saleh, et al.Journal of Medical Case Reports|September 5, 2024
Helsmoortel-Van der Aa syndrome in a 13-year-old girl with autistic spectrum disorder, dysmorphism, a right solitary kidney, and polycystic ovaries: a case reportEbtesam Al-Enezi, Mohannad Alghamdi, Khaled Al-Enezi, et al.American Journal of Human Genetics|May 19, 2004
Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type ILChristian G Frank, Claudia E Grubenmann, Wafaa Eyaid, et al.Annals of Human Genetics|December 23, 2017
A new association between CDK5RAP2 microcephaly and congenital cataractsAhmed Alfares, Ibtihal Alhufayti, Lamia Alsubaie, et al.Pageof 7