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European Archives of Oto-Rhino-Laryngology, ISSN 0937-4477, 2/2018, Volume 275, Issue 2, pp. 365 - 369
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2014, Volume 22, Issue 1, pp. 99 - 104
Journal Article
Nature Genetics, ISSN 1061-4036, 11/2012, Volume 44, Issue 11, pp. 1265 - 1271
Journal Article
PLoS ONE, ISSN 1932-6203, 01/2012, Volume 7, Issue 1, pp. e28936 - e28936
The Clinic for Special Children (CSC) has integrated biochemical and molecular methods into a rural pediatric practice serving Old Order Amish and Mennonite... 
POSTERIOR COLUMN ATAXIA | INTERACTING PROTEIN | TRANSCRIPTIONAL COACTIVATORS | BIOLOGY | C-MYC | STATUS-EPILEPTICUS | DEATH | TRANSFER-RNA | MUTATIONS | RETINITIS-PIGMENTOSA | ADAPTER MOLECULE | Seizures - genetics | Microtubule-Associated Proteins - genetics | CRADD Signaling Adaptor Protein | Humans | Child, Preschool | Infant | Amino Acyl-tRNA Synthetases | Receptors, Virus - genetics | Intellectual Disability - genetics | Amish - genetics | Ethnic Groups - genetics | Usher Syndromes - genetics | Membrane Transport Proteins - genetics | Chromosome Mapping - methods | Epilepsy - genetics | Parkinsonian Disorders - genetics | Nuclear Proteins - genetics | Child | Intracellular Signaling Peptides and Proteins - genetics | Infant, Newborn | Genetic Predisposition to Disease - genetics | Genetic Association Studies - methods | Dopamine Plasma Membrane Transport Proteins - genetics | Exome - genetics | Polymorphism, Single Nucleotide | Sequence Analysis, DNA - methods | Genetic aspects | Nucleotide sequencing | Single nucleotide polymorphisms | DNA sequencing | Neurosciences | Disease | Genes | Business improvement districts | Mapping | Biology | Single-nucleotide polymorphism | Gene polymorphism | Population genetics | Data bases | Gene sequencing | Coupling (molecular) | Enterprise zones | Lists | Children | Pathogens | Nuclear electric power generation | Pathogenicity | Medicine | Hospitals | DNA microarrays | Genotyping | Mutation | Gene mapping | Polymorphism | Index Medicus
Journal Article
PLoS ONE, ISSN 1932-6203, 04/2014, Volume 9, Issue 4, pp. e94272 - e94272
Journal Article
Human Mutation, ISSN 1059-7794, 02/2016, Volume 37, Issue 2, pp. 184 - 193
Journal Article
PLoS ONE, ISSN 1932-6203, 06/2013, Volume 8, Issue 6, pp. e65574 - e65574
Background: Retinal dystrophies (RD) are a group of hereditary diseases that lead to debilitating visual impairment and are usually transmitted as a Mendelian... 
LEBER CONGENITAL AMAUROSIS | RP1 | GENE | USHER-SYNDROME | MULTIDISCIPLINARY SCIENCES | RECESSIVE RETINITIS-PIGMENTOSA | GENOTYPING MICROARRAY | MODIFIER ALLELES | MUTATIONS | IDENTIFICATION | SPANISH FAMILIES | Genetic Predisposition to Disease - genetics | Extracellular Matrix Proteins - genetics | Humans | Cyclic Nucleotide-Gated Cation Channels - genetics | Retinitis Pigmentosa - genetics | Male | Leber Congenital Amaurosis - genetics | Spain | Exome - genetics | ATP-Binding Cassette Transporters - genetics | Usher Syndromes - genetics | Pedigree | Adaptor Proteins, Signal Transducing - genetics | Nicotinamide-Nucleotide Adenylyltransferase - genetics | Female | Eye Proteins - genetics | Retinal Dystrophies - genetics | Genetic aspects | Genetic disorders | Disease transmission | Nucleotide sequencing | Genes | DNA sequencing | USH2A protein | Retinitis pigmentosa | Retina | Identification | Genomes | Hybridization | Medical diagnosis | Gene sequencing | Genetics | Diagnosis | Genotypes | Deoxyribonucleic acid--DNA | Visually handicapped people | Data analysis | Congenital diseases | Data processing | Patients | Hereditary diseases | Studies | Blindness | Acetylcholine receptors | Diagnostic systems | Retinitis | Mutation | Dystrophy | Genetic testing | Cost analysis | Index Medicus | Deoxyribonucleic acid | DNA
Journal Article
Journal Article