Medicine & Life Sciences
Phenylketonurias
100%
Mutation
56%
Phenylalanine
44%
Phenotype
42%
Child
33%
sapropterin
32%
Genes
32%
Intellectual Disability
29%
KATP Channels
29%
Cantu syndrome
28%
White Matter
25%
Exome
24%
Winter Shortland Temple syndrome
15%
Genetic Association Studies
14%
Holoprosencephaly
14%
Brain
14%
Osteogenesis Imperfecta
13%
Anhidrotic Ectodermal Dysplasia 1
13%
Protein Kinases
13%
Filamins
12%
Chromosomes
12%
Penetrance
11%
Phenylalanine Ammonia-Lyase
11%
Neurodevelopmental Disorders
11%
Neonatal Screening
11%
Newborn Infant
11%
Microcephaly
10%
Congenital Heart Defects
9%
Syndactyly
9%
Mitochondrial Diseases
9%
Fibromuscular Dysplasia
9%
Genomic Segmental Duplications
9%
Skin
8%
Nonsense Codon
8%
Osteochondrodysplasias
8%
Point Mutation
8%
Continuous Renal Replacement Therapy
8%
Autism Spectrum Disorder
8%
Brachydactyly
8%
Diffusion Tensor Imaging
8%
Collagen Type I
8%
Oto-Palato-digital syndrome type 1
8%
Frontometaphyseal dysplasia
8%
Fc-EDA
8%
Comparative Genomic Hybridization
7%
Proteins
7%
Type IV Osteogenesis Imperfecta
7%
Cardiomyopathies
7%
Gain of Function Mutation
7%
Beckwith-Wiedemann Syndrome
7%