Genetics of familial hypercholesterolemia: New insight - Volume II

Alpo Juhani Vuorio, Uma Ramaswami, Kirsten B. Holven

Frontiers Media SA

Science Pharmacology Cardiovascular and Smooth Muscle Pharmacology

Keywords: Familial Hypercholesterolemia,­Genetics,­diagnostics,­Mutation,­cascade testing

Highly consanguineous populations and rare genetic diseases in pediatrics

Naglaa M. Kamal, Laila Sherief

Frontiers Media SA

Science Genetics Genetics of Common and Rare Diseases

Keywords: Consanguineous,­Rare genetic diseases,­Genetics,­Pediatrics,­Molecular genetic testing,­genetic family study

NGS Technologies of Rare Diseases Diagnosis

María L. Couce, Emiliano González Vioque, Richard J. Rodenburg

Frontiers Media SA

Health Pediatrics Genetics of Common and Rare Diseases

Keywords: NGS,­Rare Diseases,­RNA-Seq,­Integrative omics

Inherited Metabolic Diseases in Pediatrics: Clinical and Molecular Features

Yuan-Zong Song, Hui Xiong, Huiwen Zhang

Frontiers Media SA

Health Pediatrics Genetics of Common and Rare Diseases

Keywords: Pediatric diseases,­Next-generation sequencing,­genetic disorders,­genetic diagnostics,­Clinical genetics

Women in Science: Genetics

Rana Dajani, Zodwa Dlamini, Aparna Vasanthakumar, Deepika Polineni, Silvia Calo, Jaira Ferreira de Vasconcellos, Malak Abedalthagafi, Bertha Hidalgo, Carine Le Goff

Frontiers Media SA

Science Genetics Neurogenomics

Keywords: Women,­Genetics,­stem,­Genomic,­multidisciplinary,­women in science

Genetic Studies on Spondyloarthritis: from Disease Predictors to Therapeutic Targets

Fabiana Paladini, Roberta Ramonda, Tony Kenna, Matteo Vecellio

Frontiers Media SA

Science Genetics Genetics of Common and Rare Diseases

Developmental Delay and Intellectual Disability

Santasree Banerjee, Muhammad Ayub, Chen Li, Anjana Munshi

Frontiers Media SA

Science Genetics Genetics of Common and Rare Diseases

Improving Medical Diagnosis in Rare Diseases

Natália Duarte Linhares, Alfredo Brusco, Kathleen M. Gorman

Frontiers Media SA

Science Genetics Genetics of Common and Rare Diseases

Novel Insights into the Genetics of Growth Disorders

Mara Giordano, Liborio Stuppia

Frontiers Media SA

Health Endocrinology Pediatric Endocrinology

Keywords: Growth Disorders,­short stature,­Gene mutations,­pituitary hormone deficiency,­Imprinting disorders