Thema
Journal Article
40
Case Reports
22
Research Support, Non-U.S. Gov't
9
India
8
570
7
Biology
7
Hearing loss
5
Letter
5
Arginase deficiency
4
Argininemia
4
CNV
4
Dystrophinopathies. Mutational spectrum. Variants. DMD. Exon skipping. Stop codon
4
Editorial
4
Lysosomal storage disorders
4
Metabolic disorders
4
Microarray
4
Microdeletions
4
Microduplications
4
Prenatal
4
Prenatal diagnosis
4
Spastic diplegia
4
Urea cycle disorders
4
VOUS
4
Asian Indians
3
Cancer surveillance
3
Carrier screening
3
Colonic polyp
3
Colorectal cancer
3
Comment
3
Cystic fibrosis
3
Familial adenomatous polyposis
3
Genetics
3
Hereditary cancer syndrome
3
Hereditary non-polyposis colorectal cancer
3
Mutation
3
Pompe disease
3
Research Support, N.I.H., Extramural
3
Acute liver failure
2
Amino acid disorder
2
Argininosuccinic aciduria
2
Autopsy
2
Behavioral problems
2
Cardio-facio-cutaneous syndrome
2
Cardiomyopathy
2
Carnitine
2
Citrullinemia
2
Congenital adrenal hyperplasia
2
Congenital heart disease
2
Congenital hypothyroidism
2
Diagnosis
2
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