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Publications by A. J. Griswold
A Rare ANOS1 Variant in Siblings With Kallmann Syndrome Identified by Whole Exome Sequencing
Andrology
Endocrinology
Reproductive Medicine
Urology
Metabolism
Diabetes
Related publications
Whole‐exome Sequencing Identified a Novel Variant in an Iranian Patient Affected by Pycnodysostosis
Molecular genetics & genomic medicine
Genetics
Molecular Biology
Whole-Exome Sequencing Reveals a Rare Missense Variant in SLC16A9 in a Pedigree With Early-Onset Gout
BioMed Research International
Immunology
Molecular Biology
Biochemistry
Microbiology
Medicine
Genetics
Exome Sequencing Identified New Mutations in a Marfan Syndrome Family
Diagnostic Pathology
Forensic Medicine
Medicine
Pathology
Histology
TCOF1 Pathogenic Variants Identified by Whole-Exome Sequencing in Chinese Treacher Collins Syndrome Families and Hearing Rehabilitation Effect
Orphanet Journal of Rare Diseases
Medicine
Genetics
Pharmacology
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
Novel Mutations in PRPF31 Causing Retinitis Pigmentosa Identified Using Whole-Exome Sequencing
Investigative Ophthalmology and Visual Science
Molecular Neuroscience
Ophthalmology
Sensory Systems
Cellular
Whole-Exome Sequencing Analysis of Waardenburg Syndrome in a Chinese Family
Human Genome Variation
Biochemistry
Genetics
Molecular Biology
Whole Exome Sequencing Identified Sixty-Five Coding Mutations in Four Neuroblastoma Tumors
Scientific Reports
Multidisciplinary
