Laila K. Effat

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study

Gillian Rice, Gabriella Forte, Marcin Szynkiewicz et al. · The Lancet Neurology · 2013 · 438 citations

Life Sciences, Genetics, Molecular Genetics +16

A long-term study of bone mineral density in patients with phenylketonuria under diet therapy

Hala M. Koura, Nagwa Abdallah Ismail, Ashraf Kamel et al. · Archives of Medical Science · 2011 · 38 citations · Full text

Medicine, Nutrition, Nutritional Sciences +17

Molecular and phenotypic spectrum of <i>ASPM</i>‐related primary microcephaly: Identification of eight novel mutations

Mohamed S. Abdel‐Hamid, Manal F. Ismail, Hebatallah A. Darwish et al. · American Journal of Medical Genetics Part A · 2016 · 35 citations

Life Sciences, Genetics, Molecular Genetics +17

A homozygous mutation in <i>RNU4ATAC</i> as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder

Ghada M. H. Abdel‐Salam, Noriko Miyake, Maha M. Eid et al. · American Journal of Medical Genetics Part A · 2011 · 33 citations

Life Sciences, Genetics, Molecular Genetics +17

Further delineation of the clinical spectrum in <i>RNU</i><i>4</i><i>ATAC</i> related microcephalic osteodysplastic primordial dwarfism type I

Ghada M. H. Abdel‐Salam, Mohamed S. Abdel‐Hamid, Nihal Adel Hassan et al. · American Journal of Medical Genetics Part A · 2013 · 23 citations

Medicine, Genetics, Human Genetics +16