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Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome
E Husu, Hd Hove, Stense Farholt, M Bille,
L Tranebjaerg
, Ida Vogel, S Kreiborg
Medical Genetics Program
Sektion 05
Institut for Klinisk Medicin
21
Citationer (Scopus)
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Keyphrases
Chromodomain Helicase DNA-binding Proteins
100%
CHARGE Syndrome
100%
Coloboma
66%
Ear Anomaly
66%
Choanal Atresia
66%
Heart Defects
66%
Genital Abnormalities
33%
Neonate
33%
Cranial Nerve Dysfunction
33%
Vestibular Disorders
33%
Cardinal Symptoms
33%
Phenotypic Spectrum
33%
Multiple Malformation Syndrome
33%
Temporal Bone
33%
Swallowing Problems
33%
Genotype-phenotype Correlation
33%
Genetic Testing
33%
Hypoplasia
33%
Hearing Impairment
33%
Magnetic Resonance Imaging Scan
33%
Magnetic Resonance Imaging
33%
Phenotypic Characteristics
33%
Genital
33%
Sudden Sensorineural Hearing Loss (SSNHL)
33%
Clinical Diagnosis
33%
Bone Abnormalities
33%
Three Dimensional Reconstruction
33%
Medical Records
33%
Clinical Symptoms
33%
Clinical Features
33%
Computed Tomography
33%
Clinical Photographs
33%
Medicine and Dentistry
DNA Binding Protein
100%
Syndrome CHARGE
100%
Helicase
100%
Magnetic Resonance Imaging
66%
Choanal Atresia
66%
Ear Malformation
66%
Coloboma
66%
Growth, Development and Aging
66%
Computer Assisted Tomography
33%
Sensorineural Hearing Loss
33%
Hypoplasia
33%
Three-Dimensional Reconstruction
33%
Hearing Impairment
33%
Genotype Phenotype Correlation
33%
Neonate
33%
Prevalence
33%
Cranial Nerve
33%
Vestibular Disorder
33%
Temporal Bone
33%
Genetic Screening
33%
Photograph
33%
Clinical Feature
33%
Biochemistry, Genetics and Molecular Biology
Helicase
100%
Chromodomain
100%
DNA-binding Protein
100%
Magnetic Resonance Imaging
66%
Growth, Development and Aging
66%
Genotype Phenotype Correlation
33%
Reconstruction
33%
Medical Record
33%
Genetic Screening
33%
Prevalence
33%
Computer Assisted Tomography
33%
Genetics
33%
Nursing and Health Professions
DNA Binding Protein
100%
Helicase
100%
Syndrome CHARGE
100%
Coloboma
66%
Ear Malformation
66%
Hypoplasia
33%
Multiple Malformation Syndrome
33%
Vestibular Disorder
33%
Pharmacology, Toxicology and Pharmaceutical Science
DNA Binding Protein
100%
Syndrome CHARGE
100%
Choana atresia
66%
Ear Malformation
66%
Coloboma
66%
Multiple Malformation Syndrome
33%
Hypoplasia
33%
Vestibular Disorder
33%
Neuroscience
Helicase
100%
DNA-binding Protein
100%
Magnetic Resonance Imaging
66%
Sensorineural Hearing Loss
33%
Hypoplasia
33%
Cranial Nerve
33%
Computed Tomography
33%
Temporal Bone
33%