Odonto-onycho-dermal dysplasia is a rare autosomal recessive syndrome in which the
presenting phenotype is dry hair, severe hypodontia, smooth tongue with marked reduction of …

Leukodystrophies are a heterogeneous group of inherited neurodegenerative disorders
characterized by abnormal white matter visible by brain imaging. It is estimated that at least 30% …

Background Recently, biallelic mutations in the Neuroblastoma Amplified Sequence NBAS
gene have been identified in ten patients that present recurrent acute liver failure (RALF) in …

Baller-Gerold syndrome (BGS) is a rare autosomal recessive condition with radial aplasia/hypoplasia
and craniosynostosis (OMIM 218600). Of >20 cases reported so far, a few appear …

Charcot–Marie–Tooth (CMT) disease is a heterogeneous group of inherited peripheral
motor and sensory neuropathies characterized by chronic distal weakness with progressive …

Brown‐Vialetto‐Van Laere syndrome or pontobulbar palsy with deafness is a rare disorder
characterized by bilateral nerve deafness, a variety of cranial nerve disorders usually …

Charcot-Marie-Tooth (CMT) disorders are a clinically and genetically heterogeneous group
of hereditary motor and sensory neuropathies characterized by muscle weakness and …

With the rapidly developing high-throughput sequencing technologies known as next
generation sequencing or NGS, our approach to gene hunting and diagnosis has drastically …

The effects of pasteurization and fat composition were studied simultaneously during the
manufacture of experimental semi-hard cheeses. Two different fat compositions were obtained …

Escobar syndrome is a form of arthrogryposis multiplex congenita and features joint
contractures, pterygia, and respiratory distress. Similar findings occur in newborns exposed to …