Identifying genes and mutations in the monogenic inherited skin diseases is a challenging task. Discoveries are cherished but often gene-hunting efforts have gone unrewarded because technology has failed to keep pace with investigators’ enthusiasm and clinical resources. But times are changing. The recent arrival of next-generation sequencing has transformed what can now be achieved
Background: Subtypes of inherited epidermolysis bullosa (EB) vary significantly in their clinical pr...
Genodermatoses are one of the major causes of long-term morbidity including crippling deformities an...
Skin is a highly specialized organ system of human body.It is the exterior most part of our body and...
Next-generation sequencing applied either to the entire genome or to a subset, such as a whole exome...
The past two decades have seen significant and unprecedented progress in human genetics owing to the...
The last decade has seen considerable advances in our understanding of the genetic basis of skin dis...
Rapid advances in next-generation sequencing technology are revolutionizing approaches to genomic an...
Introduction Genetic mosaicism underlies many inherited and acquired cutaneous disorders. Despite th...
Human genodermatoses represent a broad and partly confusing spectrum of countless rare diseases with...
Over the past decade, Next-Generation Sequencing (NGS) has advanced our understanding, diagnosis, an...
Background The routine diagnosis of genodermatoses is significantly complicated by the fact that in...
Molecular confirmation of a clinical diagnosis of an inherited disease or of congenital malformation...
The 42nd Annual Symposium on the Biology of the Skin, entitled “The Genetics of Skin Disease”, was h...
Beginning in 2009, the advent of exome sequencing has contributed significantly towards new discove...
Autozygosity mapping (AM) is a technique utilised for mapping homozygous autosomal recessive (AR) tr...
Background: Subtypes of inherited epidermolysis bullosa (EB) vary significantly in their clinical pr...
Genodermatoses are one of the major causes of long-term morbidity including crippling deformities an...
Skin is a highly specialized organ system of human body.It is the exterior most part of our body and...
Next-generation sequencing applied either to the entire genome or to a subset, such as a whole exome...
The past two decades have seen significant and unprecedented progress in human genetics owing to the...
The last decade has seen considerable advances in our understanding of the genetic basis of skin dis...
Rapid advances in next-generation sequencing technology are revolutionizing approaches to genomic an...
Introduction Genetic mosaicism underlies many inherited and acquired cutaneous disorders. Despite th...
Human genodermatoses represent a broad and partly confusing spectrum of countless rare diseases with...
Over the past decade, Next-Generation Sequencing (NGS) has advanced our understanding, diagnosis, an...
Background The routine diagnosis of genodermatoses is significantly complicated by the fact that in...
Molecular confirmation of a clinical diagnosis of an inherited disease or of congenital malformation...
The 42nd Annual Symposium on the Biology of the Skin, entitled “The Genetics of Skin Disease”, was h...
Beginning in 2009, the advent of exome sequencing has contributed significantly towards new discove...
Autozygosity mapping (AM) is a technique utilised for mapping homozygous autosomal recessive (AR) tr...
Background: Subtypes of inherited epidermolysis bullosa (EB) vary significantly in their clinical pr...
Genodermatoses are one of the major causes of long-term morbidity including crippling deformities an...
Skin is a highly specialized organ system of human body.It is the exterior most part of our body and...