Abstract Recent expert guidelines recommend genetic testing for the diagnosis of Alport syndrome. Here, we…
Abstract It has previously been demonstrated that the self-inactivating γ-globin lentiviral vector GGHI can significantly…
Abstract Paediatric and Adolescent Gynaecology (PAG) is a subspecialty under the umbrella of Obstetrics and…
Abstract Functional gastrointestinal disorders (FGID) are heterogeneous disorders with a variety of clinical manifestations, primarily…
Abstract The linguistic foundations of science and technology include many terms that have been borrowed…
Abstract Complement factor H-related protein 5 (CFHR5) nephropathy is an inherited renal disease characterized by…
Abstract We describe a female with Rett syndrome carrying a rare de novo mosaic nonsense…
Abstract Charcot-Marie-Tooth disease type 4C is the most common recessively inherited demyelinating neuropathy that results…
Abstract To investigate how genotype is related to phenotype and document correlations of genotype-phenotype with…
Abstract Rare diseases pose a global challenge, in that their collective impact on health systems…
Abstract Designer nucleases are versatile tools for genome modification and therapy development and have gained…
Abstract Gitelman syndrome is an autosomal recessive salt-wasting tubulopathy caused by mutations in the gene.…
Abstract Classic galactosaemia is an inherited metabolic disorder of galactose metabolism caused by deficiency of…
Abstract The outcome of infection with Leishmania infantum in dogs is variable, which is thought…
Abstract We describe the identification of a novel missense mutation in the second zinc finger…
Abstract A pathologic expansion of a noncoding GGGGCC hexanucleotide repeat of the C9orf72 gene has…
Abstract In recent decades, there has been a marked increase in the prevalence of thyroid…
Abstract Dysosteosclerosis (DOS) is a distinct form of sclerosing bone disease characterized by irregular osteosclerosis…
Abstract Multiple sclerosis (MS) is a chronic demyelinating disease of the central nervous system (CNS)…
Abstract Circulating levels of adiponectin, an adipocyte-secreted protein associated with cardiovascular and metabolic risk, are…
Abstract It is not surprising that one of the most complex phenomena in nature is…
Abstract This case report describes a 47,XXX girl who presented very early, at the age…
Abstract PURPOSE: Multiple endocrine neoplasia type 2 (MEN2) affects patients with RET proto-oncogene mutations. This…
Abstract A molecular epidemiology study of HIV-1 infection was conducted in one hundred diagnosed and…
Abstract BACKGROUND: About 40-50% of patients with familial microscopic hematuria (FMH) caused by thin basement…
Abstract The GBA2 gene encodes the non-lysosomal glucosylceramidase (NLGase), an enzyme that catalyzes the conversion…
Abstract The present study investigated the clinical and mutational spectrum of aniridia in a cohort…
CSHG c/o Thessalia Papasavva
Secretary of the Cyprus Society of Human Genetics
The Cyprus Institute of Neurology and Genetics
6 Iroon Avenue, 2371 Nicosia, Cyprus
P.O. Box 23462, 1683 Nicosia, Cyprus
E-mail Contact: contact@cshg.org.cy
