Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families

Human knockout research: new horizons and opportunities

(2015) Fowzan S. Alkuraya   TRENDS IN GENETICS

Genetics and genomic medicine in Saudi Arabia

(2014) Fowzan S. Alkuraya   Molecular Genetics & Genomic Medicine

The application of next-generation sequencing in the autozygosity mapping of human recessive diseases

(2013) Fowzan S. Alkuraya   HUMAN GENETICS

Identification of an Ubinuclein 1 Region Required for Stability and Function of the Human HIRA/UBN1/CABIN1/ASF1a Histone H3.3 Chaperone Complex

(2012) Yong Tang et al.   BIOCHEMISTRY

Lifting the lid on unborn lethal Mendelian phenotypes through exome sequencing

(2012) Hanan E. Shamseldin et al.   GENETICS IN MEDICINE

Mouse large-scale phenotyping initiatives: overview of the European Mouse Disease Clinic (EUMODIC) and of the Wellcome Trust Sanger Institute Mouse Genetics Project

(2012) Abdel Ayadi et al.   MAMMALIAN GENOME

P07.07: Prenatal diagnosis of rare mucopolysaccharidosis type VII (MPS VII, Morbus Sly) associated with hydrops fetalis

(2011) A. Schroer et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Etiology of nonimmune hydrops fetalis: A systematic review

(2009) Carlo Bellini et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Galactosialidosis presenting as nonimmune fetal hydrops: a case report

(2009) Susana Carvalho et al.   PRENATAL DIAGNOSIS

Human UBN1 Is an Ortholog of Yeast Hpc2p and Has an Essential Role in the HIRA/ASF1a Chromatin-Remodeling Pathway in Senescent Cells

(2008) G. Banumathy et al.   MOLECULAR AND CELLULAR BIOLOGY