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Publications by A. Micheil Innes

A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers

Cell
BiochemistryGeneticsMolecular Biology
2019English

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated With Craniofacial, Neurological, Cardiovascular, and Skeletal Features

American Journal of Human Genetics
Genetics
2018English

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated With Craniofacial, Neurological, Cardiovascular, and Skeletal Features

American Journal of Human Genetics
Genetics
2018English

Neuropathy Due to Impaired Axonal Transport of Non-Fragmented Mitochondria in MYH14 Mutation Carriers—Authors’ Reply

EBioMedicine
BiochemistryMedicineGeneticsMolecular Biology
2019English

GeneMatcher Aids in the Identification of a New Malformation Syndrome With Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants inHNRNPK

Human Mutation
Genetics
2015English

Titinopathy in a Canadian Family Sharing the British Founder Haplotype

Canadian Journal of Neurological Sciences
MedicineNeurology
2014English

Prenatal Features of Costello Syndrome: Ultrasonographic Findings and Atrial Tachycardia

Prenatal Diagnosis
GynecologyGeneticsObstetrics
2009English

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