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Journal of the American Academy of Dermatology, ISSN 0190-9622, 09/2019, Volume 81, Issue 3, pp. 867 - 877
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2014, Volume 95, Issue 2, pp. 218 - 226
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 04/2019
Journal Article
Pediatrics, ISSN 0031-4005, 02/2017, Volume 139, Issue 2, p. e20162252
Journal Article
The Journal of Pediatrics, ISSN 0022-3476, 10/2019, Volume 213, pp. 235 - 240
We describe an infant with a phenotype typical of early onset Marfan syndrome whose genetic evaluation, including Sanger sequencing and deletion/duplication... 
genetic | deletion | fibrillin | FBN1 | DIAGNOSIS | PEDIATRICS | MUTATIONS | Infants (Newborn) | Medical research | Medical colleges | Genomics | Genomes | Marfan syndrome | Anopheles | Analysis | Medicine, Experimental | Genetic research | Pediatric cardiology | Skin diseases | Research institutes | Nucleotide sequencing | DNA sequencing
Journal Article
Journal of perinatology : official journal of the California Perinatal Association, ISSN 0743-8346, 08/2019, Volume 39, Issue 12, pp. 1611 - 1619
To determine the proportion of infant deaths occurring in the setting of a confirmed genetic disorder. A retrospective analysis of the electronic medical... 
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2019
Journal Article
Pediatric Neurology, ISSN 0887-8994, 11/2017, Volume 76, p. 47
Pyridoxine is converted to its biologically active form pyridoxal-5-phosphate (P5P) by the enzyme pyridox(am)ine 5'-phosphate oxidase and serves as a cofactor... 
Oxidases | Phosphates | Medical colleges | Ophthalmology | Epilepsy | Neurophysiology | Phosphatases
Journal Article
Muscle & Nerve, ISSN 0148-639X, 05/2017, Volume 55, Issue 5, pp. 761 - 765
Journal Article
Journal Article