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Clinical & Experimental Ophthalmology, ISSN 1442-6404, 09/2016, Volume 44, Issue 7, pp. 574 - 581
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 12/2013, Volume 131, Issue 12, p. 1517
  Microphthalmia, anophthalmia, and coloboma form an interrelated spectrum of congenital eye abnormalities. To document the ocular and systemic findings and... 
Medical treatment | Eye diseases | Ophthalmology
Journal Article
Human Mutation, ISSN 1059-7794, 04/2016, Volume 37, Issue 4, pp. 371 - 384
Journal Article
Cell, ISSN 0092-8674, 2010, Volume 140, Issue 1, pp. 74 - 87
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 03/2018, Volume 26, Issue 3, pp. 428 - 433
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 03/2014, Volume 9, Issue 3, pp. e90852 - e90852
Delineating candidate genes at the chromosomal breakpoint regions in the apparently balanced chromosome rearrangements (ABCR) has been shown to be more... 
LINKED LYMPHOPROLIFERATIVE SYNDROME | HUMAN GENOME | MENTAL-RETARDATION | GENE | TRANSLOCATION BREAKPOINT | MULTIDISCIPLINARY SCIENCES | SCHIZOPHRENIA | INSITU HYBRIDIZATION | COPY NUMBER VARIATION | REARRANGEMENTS | STRUCTURAL VARIATION | Translocation, Genetic | Genetic Association Studies | Language Development Disorders - genetics | Chromosome Breakpoints | Humans | Molecular Sequence Data | Male | Developmental Disabilities - genetics | Chromosome Inversion | Sequence Analysis, DNA | DNA Copy Number Variations | Pedigree | Base Sequence | Female | High-Throughput Nucleotide Sequencing | RNA | Analysis | Genes | Genomics | Genomes | Nucleotide sequencing | Speech disorders | Protein binding | DNA sequencing | Brain | Childrens health | Disorders | Oncology | XIAP protein | Homology | Biology | Hybridization | Neurodevelopmental disorders | Guanine nucleotide-binding protein | Chromosome rearrangements | Guanine | Delay | Gene sequencing | Genetics | Chromosomes | Deoxyribonucleic acid--DNA | Breakpoints | Medical research | Congenital diseases | Fetuses | Immunodeficiency | Gene expression | Ribonucleic acid--RNA | Medical screening | Patients | Medicine | Studies | RNA-binding protein | Hospitals | Technology assessment | Speech | Gene mapping | Positron emission tomography | Cancer | Apoptosis | Index Medicus | Deoxyribonucleic acid | Ribonucleic acid | DNA
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 04/2019, Volume 21, Issue 9, pp. 2103 - 2115
To identify the molecular cause in five unrelated families with a distinct autosomal dominant ocular systemic disorder we called ROSAH syndrome due to clinical... 
Fibroblasts | Retina | Index Medicus
Journal Article