Genetics & Metabolism

Fingerprint Dive into the research topics where Genetics & Metabolism is active. These topic labels come from the works of this organization's members. Together they form a unique fingerprint.

Registries Medicine & Life Sciences
Mutation Medicine & Life Sciences
Incontinentia Pigmenti Medicine & Life Sciences
Mothers Medicine & Life Sciences
Pregnancy Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Chromosome Deletion Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences

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Research Output 1972 2019

A Jittery Newborn With an Abnormal Newborn Screen

Cooper, E. E., Szumlas, G. A., Lombardo, R. C. & Real, F. J., Oct 1 2019, In : Clinical Pediatrics. 58, 11-12, p. 1354-1356 3 p.

Research output: Contribution to journalArticle

A Novel Homozygous Deletion within the FRY Gene Associated with Nonsyndromic Developmental Delay

Paulraj, P., Bosworth, M., Longhurst, M., Hornbuckle, C., Gotway, G. K., Lamb, A. N. & Andersen, E. F., Jan 1 2019, (Accepted/In press) In : Cytogenetic and Genome Research.

Research output: Contribution to journalArticle

Intellectual Disability
Single Nucleotide Polymorphism
Chromosomes, Human, Pair 13

A novel pathogenic variant in OFD1 results in X-linked Joubert syndrome with orofaciodigital features and pituitary aplasia

Aljeaid, D., Lombardo, R. C., Witte, D. P. & Hopkin, R. J., Jun 2019, In : American Journal of Medical Genetics, Part A. 179, 6, p. 1010-1014 5 p.

Research output: Contribution to journalArticle

Endocrine System
Pituitary Gland
Orofaciodigital Syndromes
Endocrine Glands