Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails

Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation inUBE3B

(2015) Christeen Ramane J. Pedurupillay et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

In frame exon skipping in UBE3B is associated with developmental disorders and increased mortality in cattle

(2014) Heli Venhoranta et al.   BMC GENOMICS

Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations

(2014) Lina Basel-Vanagaite et al.   HUMAN GENETICS

Ubiquitination in disease pathogenesis and treatment

(2014) Doris Popovic et al.   NATURE MEDICINE

Mammalian HECT ubiquitin-protein ligases: Biological and pathophysiological aspects

(2013) Martin Scheffner et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome

(2013) Elisabetta Flex et al.   JOURNAL OF MEDICAL GENETICS

Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome

(2012) Lina Basel-Vanagaite et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis

(2012) P. M. Campeau et al.   HUMAN MOLECULAR GENETICS

The difficult nosology of blepharophimosis-mental retardation syndromes: Report on two siblings

(2011) Maria Lisa Dentici et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH