Thema
Journal Article
53
Research Support, Non-U.S. Gov't
17
Case Reports
9
Neonate
9
Genotype
7
English Abstract
6
Gene mutation
5
nickel
5
Adenosine deaminase 2
4
Branched-chain amino acids
4
Children
4
Clinical manifestation
4
Congenital anomalies of the kidney and urinary tract
4
Deficiency of adenosine deaminase 2
4
Etiology
4
Genetic
4
Hematology
4
Hematopoietic stem cell transplantation
4
Hydrocephalus
4
Image
4
Infantile
4
Maple syrup urine disease
4
Meta-Analysis
4
Mutation
4
Newborn
4
Next generation sequencing
4
Phenotype
4
Prader–Willi syndrome
4
Prenatal diagnosis
4
Systematic Review
4
TNF inhibitors
4
Vasculitis
4
Vesicoureteral reflux
4
Whole-exome sequencing
4
A20 haploinsufficiency
3
Akt
3
COVID-19
3
Chinese Han patient
3
Deletion
3
Genetics secondary findings
3
Hypothyroidism
3
Intellectual disability
3
Interstitial lung disease
3
Liver fibrosis
3
Macrophage activation syndrome
3
Migration
3
Osteosarcoma
3
PENK
3
PI3K
3
Prader-Willi syndrome
3
mehr ...