Rare diseases represent a challenge for physicians because patients are rarely seen, and they can manifest with symptoms similar to those of common diseases. In this work, genetic confirmation of diagnosis is derived from DNA sequencing. We present a tutorial for the molecular analysis of a rare disease using Fabry disease as an example
International audienceFabry disease (FD) is an X-linked genetic disease due to pathogenic variants i...
Rare diseases, although individually rare, collectively affect approximately 350 million people worl...
This thesis is about improving diagnosis and treatment to persons affected by rare diseases. Diagnos...
Rare diseases represent a challenge for physicians because patients are rarely seen, and they can ma...
Motivation: Rare diseases are a big challenge of our community and it is important to find answers a...
Contains fulltext : 87210.pdf (publisher's version ) (Closed access)Genetic disord...
Objective: The growing availability of next-generation sequencing technologies has revolutionized me...
: Collectively, rare genetic disorders affect a substantial portion of the world's population. In mo...
JALE has received funds from Instituto de Salud Carlos III (Grant# PI20-1126), CIBERER (Grant# PIT21...
Q3Background Family genetic testing of patients newly diagnosed with a rare genetic disease can imp...
Rare diseases (RD) are a heterogeneous group of diseases that affect about 5% of the world populatio...
Rare Mendelian diseases are estimated to be ~7,000 and while each is individually rare, together con...
Fabry disease is caused by mutations in the GLA gene and is characterized by a large genotypic and p...
Introduction: Rare diseases are heterogeneous group of diseases, with one common characteristics, a ...
Rare diseases affect more than 300 million people worldwide. Diagnosing rare diseases is a major cha...
International audienceFabry disease (FD) is an X-linked genetic disease due to pathogenic variants i...
Rare diseases, although individually rare, collectively affect approximately 350 million people worl...
This thesis is about improving diagnosis and treatment to persons affected by rare diseases. Diagnos...
Rare diseases represent a challenge for physicians because patients are rarely seen, and they can ma...
Motivation: Rare diseases are a big challenge of our community and it is important to find answers a...
Contains fulltext : 87210.pdf (publisher's version ) (Closed access)Genetic disord...
Objective: The growing availability of next-generation sequencing technologies has revolutionized me...
: Collectively, rare genetic disorders affect a substantial portion of the world's population. In mo...
JALE has received funds from Instituto de Salud Carlos III (Grant# PI20-1126), CIBERER (Grant# PIT21...
Q3Background Family genetic testing of patients newly diagnosed with a rare genetic disease can imp...
Rare diseases (RD) are a heterogeneous group of diseases that affect about 5% of the world populatio...
Rare Mendelian diseases are estimated to be ~7,000 and while each is individually rare, together con...
Fabry disease is caused by mutations in the GLA gene and is characterized by a large genotypic and p...
Introduction: Rare diseases are heterogeneous group of diseases, with one common characteristics, a ...
Rare diseases affect more than 300 million people worldwide. Diagnosing rare diseases is a major cha...
International audienceFabry disease (FD) is an X-linked genetic disease due to pathogenic variants i...
Rare diseases, although individually rare, collectively affect approximately 350 million people worl...
This thesis is about improving diagnosis and treatment to persons affected by rare diseases. Diagnos...
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