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Publications by Andrew P. Jackson
Bi-Allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
American Journal of Human Genetics
Genetics
A Third Novel Locus for Primary Autosomal Recessive Microcephaly Maps to Chromosome 9q34
American Journal of Human Genetics
Genetics
Related publications
Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia
American Journal of Human Genetics
Genetics
Bi-Allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy With Brain Malformation
American Journal of Human Genetics
Genetics
Acrodysostosis - A Rare Skeletal Dysplasia
Journal of Evolution of Medical and Dental sciences
Bi-Allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans
American Journal of Human Genetics
Genetics
P71 Skeletal Dysplasia- Case Report of an Infant With Thanatophoric Dysplasia
Bi-Allelic Inactivating Variants in the COCH Gene Cause Autosomal Recessive Prelingual Hearing Impairment
European Journal of Human Genetics
Genetics
RINT1 Bi-Allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities
American Journal of Human Genetics
Genetics
Statin Therapy for Skeletal Dysplasia
Nature Reviews Endocrinology
Endocrinology
Metabolism
Diabetes
The Bone Dysplasia Ontology: Integrating Genotype and Phenotype Information in the Skeletal Dysplasia Domain
BMC Bioinformatics
Biochemistry
Applied Mathematics
Computer Science Applications
Structural Biology
Molecular Biology
