Keyphrases
Fetus
85%
Pathogenic Variants
75%
Molecular Diagnostics
68%
Genetic Counseling
66%
Exome Sequencing
56%
WT1 mutation
50%
Clinical Exome Sequencing
50%
Hajdu-Cheney Syndrome
50%
Single-center Experience
50%
Autoimmunity
50%
High Risk
50%
Clinic Setting
50%
Aristaless-related Homeobox
50%
Exon 1
50%
Autoimmune Disease
50%
Neurodevelopmental Disorders
50%
APC mutation
50%
Severely Affected
50%
Postzygotic Mosaicism
50%
Publicly Funded
50%
Multiple Congenital Anomalies
50%
Duplication
50%
Vertical Transmission
50%
Phenotypic Variation
50%
Phenotypic Spectrum
50%
Libyan
50%
Neurological Disorders
50%
Movement Disorders
50%
Jews
50%
Ryanodine Receptor
50%
Elderly Patients
50%
Middle-aged Patients
50%
Trisomy 13
50%
Trisomy 21
50%
Niemann-Pick Type C
50%
Congenital Myopathy
50%
Lymphatic Malformation
50%
Lymphocytes
50%
Aneuploidy
50%
Trisomy 18
50%
Clinical Spectrum
50%
Vascular Malformation
50%
Acyl-CoA Dehydrogenase
50%
Prenatal Microarray
50%
Copy number Variation
50%
Genetic Testing
45%
Wilms Tumor
40%
Proband
40%
Jewish
37%
Autosomal Dominant
37%
Biochemistry, Genetics and Molecular Biology
Microarrays
100%
Exome Sequencing
87%
Genetic Screening
75%
Genetics
66%
Autosomal Dominant Inheritance
60%
Autoimmunity
50%
Single-Nucleotide Polymorphism
50%
Genome-Wide Association Study
50%
Mosaicism
50%
Aneuploidy
50%
Preimplantation
50%
Trisomy 21
50%
Osteolysis
50%
Aristaless Related Homeobox
50%
Candidate Gene
50%
Dysplasia
50%
Homeobox Gene
50%
Dehydratase
50%
Lymphocyte
50%
Phytohaemagglutinin
50%
Ryanodine Receptor 1
50%
Very Long Chain Fatty Acid
25%
Proband
25%
Nucleotide Repeat
25%
Intellectual Disability
18%
Array Comparative Genomic Hybridization
18%
In Vitro Fertilisation
16%
Embryogenesis
16%
Monosomy
14%
Autosome
14%
Autosomal Trisomies
14%
Membrane Lipid
12%
Nonsense Mutation
12%
Messenger RNA
12%
Nonsense-Mediated Decay
12%
Linkage Analysis
12%
Genetic Disorder
12%
Physiological Process
12%
Enzyme Activity
12%
Muscle Function
12%
Genetic Counseling
12%
Medical Record
12%
Neurogenetics
12%
Retrospective Study
12%
Genotyping
10%
Malignant Hyperthermia
10%
Prevalence
10%
Creatine Kinase
10%
Exome
10%
Alanine
8%
Medicine and Dentistry
Splenomegaly
50%
Congenital Malformation
50%
Exon
50%
Genetic Counseling
50%
Vertical Transmission
50%
Hepatomegaly
50%
Disease
50%
APC
50%
Lymph Duct
50%
Wilms' Tumor
50%
Vascular Anomaly
50%
Ascites
50%
Hajdu Cheney Syndrome
50%
Colon Polyp
37%
Craniofacial Malformation
25%
Gonadoblastoma
25%
Polycystic Kidney Disease
25%
Fetus Death
25%
Hearing Impairment
25%
Intrauterine Growth Retardation
25%
Osteoporosis
25%
Bone Destruction
25%
Exanthem
25%
Cardiovascular System
25%
Gene Mutation
25%
Autosomal Dominant Inheritance
25%
Bone Dysplasia
25%
Storage Disease
25%
Allele
25%
Oligohydramnios
25%
Anemia
25%
Prenatal Diagnosis
25%
Fibula
25%
Diagnosis
25%
Colon Cancer
25%
Childbirth
25%
Niemann-Pick Disease
25%
Molecular Diagnosis
25%
Acroosteolysis
25%
Infancy
25%
Thrombocytopenia
25%
Cancer Diagnosis
12%
Protein Sequencing
12%
Sequence Analysis
12%
Colon Tumor
12%
Laparoscopy
12%
Stomach Cancer
12%
Tubular Adenoma
12%
Genetic Screening
12%
Conjunctiva
12%
