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American journal of obstetrics and gynecology, ISSN 0002-9378, 2014, Volume 211, Issue 6, pp. 675.e1 - 675.e19
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 01/2020, Volume 182, Issue 1, pp. 93 - 103
white matter | magnetic resonance imaging | microdeletion/microduplication syndromes | corpus callosum | copy number variation | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Brain - diagnostic imaging | Leukoencephalopathies - genetics | Microcephaly - genetics | White Matter - metabolism | Humans | Leukoencephalopathies - diagnostic imaging | Cataract - diagnostic imaging | Cataract - pathology | Male | Body Dysmorphic Disorders - diagnostic imaging | Brain - metabolism | Developmental Disabilities - diagnostic imaging | Developmental Disabilities - pathology | Cornea - pathology | Child | Abnormalities, Multiple - genetics | Optic Atrophy - genetics | Genetic Predisposition to Disease | Intellectual Disability - pathology | DNA Copy Number Variations - genetics | Microcephaly - diagnostic imaging | White Matter - pathology | Corpus Callosum - diagnostic imaging | Magnetic Resonance Imaging | Muscle Hypotonia - pathology | Adolescent | Brain - pathology | Cataract - genetics | Cornea - abnormalities | Optic Atrophy - diagnostic imaging | Cohort Studies | Abnormalities, Multiple - pathology | Cornea - diagnostic imaging | Body Dysmorphic Disorders - genetics | Corpus Callosum - metabolism | Epilepsy - diagnostic imaging | Hypogonadism - diagnostic imaging | Developmental Disabilities - genetics | Intellectual Disability - genetics | Optic Atrophy - pathology | Chromosomes - genetics | Agenesis of Corpus Callosum - genetics | Microcephaly - pathology | Epilepsy - genetics | Female | Hypogonadism - pathology | Leukoencephalopathies - pathology | Muscle Hypotonia - genetics | Muscle Hypotonia - diagnostic imaging | Intellectual Disability - diagnostic imaging | Agenesis of Corpus Callosum - diagnostic imaging | Body Dysmorphic Disorders - pathology | Abnormalities, Multiple - diagnostic imaging | Agenesis of Corpus Callosum - pathology | Hypogonadism - genetics | White Matter - diagnostic imaging | Cataract - congenital | Corpus Callosum - pathology | Epilepsy - pathology | Neuroimaging | Nuclear magnetic resonance--NMR | Copy number | Intellectual disabilities | Epilepsy | Medical records | Neurodevelopmental disorders | Substantia alba | Substantia grisea | Patients | Corpus callosum | Microencephaly | Magnetic resonance imaging | Index Medicus
Journal Article
Prenatal diagnosis, ISSN 0197-3851, 07/2016, Volume 36, Issue 7, pp. 650 - 655
Journal Article
Prenatal diagnosis, ISSN 0197-3851, 12/2016, Volume 36, Issue 13, pp. 1270 - 1275
Journal Article
European radiology, ISSN 0938-7994, 08/2020, Volume 30, Issue 8, pp. 4272 - 4283
Journal Article