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Genetics in Medicine, ISSN 1098-3600, 08/2017, Volume 19, Issue 8, pp. 875 - 882
Journal Article
Research in Developmental Disabilities, ISSN 0891-4222, 2010, Volume 31, Issue 1, pp. 9 - 24
As part of multidisciplinary surveys of three Behavioural Phenotype Conditions (BPCs); Möbius sequence (Möbius), CHARGE syndrome (CHARGE) and... 
Möbius | Diagnostics | Autism spectrum conditions | OAV | CHARGE | FUNCTIONAL DEFICITS | GOLDENHAR-SYNDROME | Mobius | DISORDERS | CLINICAL-FEATURES | DEAF-CHILDREN | MOEBIUS SYNDROME | EDUCATION, SPECIAL | HEARING-LOSS | DISABILITY | REHABILITATION | ASSOCIATION | BEHAVIOR CHECKLIST | Childhood Autism Rating Scale | Autism | Visual Impairments | Hearing Impairments | Behavior Disorders | Pervasive Developmental Disorders | Check Lists | Mental Retardation | Observation | Interviews | Clinical Diagnosis | Rating Scales | Heart Defects, Congenital - classification | Mobius Syndrome - diagnosis | Choanal Atresia - psychology | Humans | Child, Preschool | Infant | Male | Deafness - psychology | Developmental Disabilities - classification | Heart Defects, Congenital - psychology | Sweden | Goldenhar Syndrome - diagnosis | Choanal Atresia - diagnosis | Child Development Disorders, Pervasive - diagnosis | Female | Interview, Psychological | Developmental Disabilities - diagnosis | Child Development Disorders, Pervasive - classification | Disability Evaluation | Diagnostic and Statistical Manual of Mental Disorders | Coloboma - diagnosis | Blindness - diagnosis | Goldenhar Syndrome - psychology | Abnormalities, Multiple - psychology | Coloboma - psychology | Deafness - diagnosis | Syndrome | Blindness - psychology | Neuropsychological Tests | Magnetic Resonance Imaging | Coloboma - classification | Mobius Syndrome - classification | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Mobius Syndrome - psychology | Brain - pathology | Goldenhar Syndrome - classification | Heart Defects, Congenital - diagnosis | Intellectual Disability - psychology | Abnormalities, Multiple - classification | Choanal Atresia - classification | Developmental Disabilities - psychology | Index Medicus | Psychological | Brain | Developmental Disabilities | Pervasive | Psychology | Child Development Disorders | Heart Defects | Interview | Mobius Syndrome | Classification | Psykiatri | Diagnosis | Goldenhar Syndrome | Child | Intellectual Disability | Deafness | Multiple | Congenital | Abnormalities | Choanal Atresia | Preschool | Coloboma | Pathology | Blindness | Psychiatry
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 2006, Volume 43, Issue 4, pp. 306 - 314
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 10/2015, Volume 53, Issue 2, pp. 98 - 110
Journal Article
Journal Article
Journal of pediatric ophthalmology and strabismus, 2015, Volume 52, pp. e22 - e25
Optic nerve coloboma and microphthalmos with colobomatous cyst are rare congenital anomalies that are difficult to detect on prenatal ultrasonography and... 
Optic Nerve - diagnostic imaging | Microphthalmos - diagnostic imaging | Humans | Optic Nerve - abnormalities | Young Adult | Limb Deformities, Congenital - diagnosis | Magnetic Resonance Imaging | Cysts - diagnostic imaging | Ultrasonography, Prenatal | Female | Coloboma - diagnostic imaging | Extremities | Infant, Newborn
Journal Article
Birth Defects Research Part A - Clinical and Molecular Teratology, ISSN 1542-0752, 03/2012, Volume 94, Issue 3, pp. 147 - 152
BACKGROUND Infants with anophthalmia and microphthalmia frequently have other associated congenital anomalies. The reported frequency and types of associated... 
An/microphthalmia | Birth defects | Anophthalmia | Eye malformations | Congenital anomalies | Microphthalmia | eye malformations | COLOBOMA MAC | SYSTEM | DEFECTS | microphthalmia | ANOMALIES | anophthalmia | SOX2 CAUSE ANOPHTHALMIA | DESCRIPTIVE EPIDEMIOLOGY | DEVELOPMENTAL BIOLOGY | congenital anomalies | an | birth defects | CONGENITAL EYE MALFORMATIONS | CONSECUTIVE BIRTHS | TOXICOLOGY | MUTATIONS | HOMEOBOX GENE | Chromosome Disorders - epidemiology | Congenital Abnormalities - epidemiology | Polycystic Kidney Diseases - diagnosis | Trisomy | Prevalence | Encephalocele - epidemiology | Humans | Infant | Microphthalmos - epidemiology | CHARGE Syndrome - epidemiology | Congenital Abnormalities - diagnosis | Spine - abnormalities | Abnormalities, Multiple - epidemiology | Amniotic Band Syndrome - epidemiology | Chromosome Disorders - diagnosis | Amniotic Band Syndrome - diagnosis | Trachea - abnormalities | Ciliary Motility Disorders - epidemiology | Encephalocele - diagnosis | France - epidemiology | CHARGE Syndrome - diagnosis | Esophagus - abnormalities | Anal Canal - abnormalities | Limb Deformities, Congenital - diagnosis | Kidney - abnormalities | Limb Deformities, Congenital - epidemiology | Abnormalities, Multiple - diagnosis | Chromosomes, Human, Pair 13 | Heart Defects, Congenital - epidemiology | Ciliary Motility Disorders - diagnosis | Heart Defects, Congenital - diagnosis | Trisomy 13 Syndrome | Polycystic Kidney Diseases - epidemiology | Anophthalmos - epidemiology | Index Medicus
Journal Article
Advances in Neonatal Care, ISSN 1536-0903, 12/2012, Volume 12, Issue 6, pp. 336 - 342
CHARGE syndrome is a condition that has historically been diagnosed on the basis of the clinical findings of coloboma, heart disease, choanal atresia,... 
CHARGE syndrome | Coloboma | Neonatal | Congenital heart disease | Choanal atresia | congenital heart disease | neonatal | choanal atresia | coloboma | NURSING | CHARGE Syndrome - physiopathology | Humans | CHARGE Syndrome - genetics | Mutation | CHARGE Syndrome - diagnosis | DNA-Binding Proteins - genetics | DNA Helicases - genetics | Infant, Newborn | Index Medicus
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2017, Volume 173, Issue 2, pp. 546 - 549
Baraitser-Winter malformation syndrome (BWMS), Fryns-Aftimos syndrome (FA), and craniofrontofacial syndromes (CFFs) have all been recently proposed to be part... 
acute myeloid leukemia | gene | Baraitser–Winter malformation syndrome | craniofrontofacial syndromes | Fryns–Aftimos syndrome | ACTB | ACTG1 | ACTB gene | ACTG1 gene | Fryns-Aftimos syndrome | FRONTO-FACIAL SYNDROME | CANCER | Baraitser-Winter malformation syndrome | RETARDATION | MALFORMATIONS | COLOBOMA | COSTELLO-SYNDROME | GENETICS & HEREDITY | PTOSIS | MUTATIONS | Translocation, Gen