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Publications by Maryam Dokhanchi
Whole‐exome Sequencing Identified a Novel Variant in an Iranian Patient Affected by Pycnodysostosis
Molecular genetics & genomic medicine
Genetics
Molecular Biology
Related publications
A Rare ANOS1 Variant in Siblings With Kallmann Syndrome Identified by Whole Exome Sequencing
Andrology
Endocrinology
Reproductive Medicine
Urology
Metabolism
Diabetes
Novel Mutations in PRPF31 Causing Retinitis Pigmentosa Identified Using Whole-Exome Sequencing
Investigative Ophthalmology and Visual Science
Molecular Neuroscience
Ophthalmology
Sensory Systems
Cellular
GCH1 Heterozygous Mutation Identified by Whole-Exome Sequencing as a Treatable Condition in a Patient Presenting With Progressive Spastic Paraplegia
Journal of Neurology
Neurology
Variant Detection Sensitivity and Biases in Whole Genome and Exome Sequencing
BMC Bioinformatics
Biochemistry
Applied Mathematics
Computer Science Applications
Structural Biology
Molecular Biology
A De Novo Heterozygous Frameshift Mutation Identified in BCL11B Causes Neurodevelopmental Disorder by Whole Exome Sequencing
Molecular genetics & genomic medicine
Genetics
Molecular Biology
Whole Exome Sequencing Identified Sixty-Five Coding Mutations in Four Neuroblastoma Tumors
Scientific Reports
Multidisciplinary
Whole Exome Sequencing Identified a Novel Heterozygous Mutation in HMBS Gene in a Chinese Patient With Acute Intermittent Porphyria With Rare Type of Mild Anemia
Frontiers in Genetics
Genetics
Molecular Medicine
Whole-Exome Sequencing Reveals Novel USP9X Variant in Female Fetus With Isolated Agenesis of the Corpus Callosum
Clinical Case Reports
Medicine
Whole Exome Sequencing Identified Novel CRB1 Mutations in Chinese and Indian Populations With Autosomal Recessive Retinitis Pigmentosa
Scientific Reports
Multidisciplinary
