Al-Salmi, 2021
ViewPDFPublication | Publication Date | Title |
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US12012634B2 (en) | Methods for diagnosing, prognosing, and treating parkinson's disease or parkinsonism | |
US11920199B2 (en) | Methods and compositions for screening and treating developmental disorders | |
US20230220468A1 (en) | Methods for detecting a genetic variation in attractin-like 1 (atrnl1) gene in subject with parkinson's disease | |
US20230348981A1 (en) | Methods and compositions for inhibiting and treating neurological conditions | |
Lionel et al. | Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures | |
Escamilla et al. | Genetics of bipolar disorder | |
Fowler et al. | Leveraging existing data sets to generate new insights into Alzheimer’s disease biology in specific patient subsets | |
Epting et al. | Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome | |
US20180179594A1 (en) | Multiple system atrophy and the treatment thereof | |
Vojinovic et al. | The dystrophin gene and cognitive function in the general population | |
Al-Salmi | Investigation of the molecular basis of inherited neurological conditions in Oman | |
Yao et al. | Diverse clinical and genetic characteristics of six cases of inherited epidermolysis bullosa | |
Manoubi et al. | Genetic investigation of the ubiquitin-protein ligase E3A gene as putative target in Angelman syndrome | |
Wang et al. | Whole‐Exome Sequencing Identified a Novel Homozygous Frameshift Mutation of HPS3 in a Consanguineous Family with Hermansky‐Pudlak Syndrome | |
DBDS Genomic Consortium | GWAS meta-analysis reveals key risk loci in essential tremor pathogenesis | |
PACHCHEK | DECIPHERING THE GENETIC ARCHITECTURE OF PARKINSON’S DISEASE IN THE LUXEMBOURGISH POPULATION | |
Pisciotta | Autism Spectrum Disorder and other Neurodevelopmental Disorders: cytogenetic and genomic approaches | |
Glanzmann | Identification of novel Parkinson’s disease genes in the South African population using a whole exome sequencing approach | |
Dastan | Exome sequencing for understanding phenotypic variability in subjects with 16p11. 2 CNV | |
Ntsapi | Screening for disease-causing genes in black South African patients with Parkinson’s disease | |
Gerrish | Analysis of dysbindin interacting genes in the pathogenesis of schizophrenia |