A Homozygous Contiguous Gene Deletion in Chromosome 16p13.3 Leads to Autosomal Recessive Osteopetrosis in a Jordanian Patient

Multiple congenital anomalies and developmental delay in a boy associated with a de novo 16p13.3 deletion

(2011) Marc Nelson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Evaluating chromosomal mosaicism by array comparative genomic hybridization in hematological malignancies: the proposal of a formula

(2011) Roberto Valli et al.   Cancer Genetics

The SWI/SNF protein BAF60b is ubiquitinated through a signalling process involving Rac GTPase and the RING finger protein Unkempt

(2010) Patrick Lorès et al.   FEBS Journal

Congenital hypothyroidism

(2010) Maynika V Rastogi et al.   Orphanet Journal of Rare Diseases

Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations

(2009) Alessandra Pangrazio et al.   HUMAN MUTATION

Infantile Malignant, Autosomal Recessive Osteopetrosis: The Rich and The Poor

(2008) Anna Villa et al.   CALCIFIED TISSUE INTERNATIONAL

The array CGH and its clinical applications

(2008) Marwan Shinawi et al.   DRUG DISCOVERY TODAY

Characterization of a Novel Alu-Alu Recombination-Mediated Genomic Deletion in theTCIRG1Gene in Five Osteopetrotic Patients

(2008) Alessandra Pangrazio et al.   JOURNAL OF BONE AND MINERAL RESEARCH