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European Journal of Medical Genetics, ISSN 1769-7212, 2019
Osteogenesis imperfecta (OI) type V is an ultrarare heritable bone disorder caused by the heterozygous c.-14C > T mutation in IFITM5. The oro-dental and... 
Osteogenesis imperfecta | Craniofacial | Fractures | Oligodontia | Dental | IFITM5
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2019, Volume 21, Issue 10, pp. 2311 - 2318
Osteogenesis imperfecta (OI) is a genetic connective tissue disorder that causes bone fragility. Phenotypic severity influences ability to walk, however,... 
osteogenesis imperfecta; mobility | bone | rare disease | gait
Journal Article
Pediatric Clinics of North America, ISSN 0031-3955, 04/2018, Volume 65, Issue 2, pp. xix - xx
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2019, Volume 21, Issue 9, pp. 1977 - 1986
Untargeted metabolomic analysis is increasingly being used in the screening and management of individuals with inborn errors of metabolism (IEM). We aimed to... 
arginase deficiency | branched-chain amino acids | metabolomics | urea cycle disorder | guanidino compounds | CEREBROSPINAL-FLUID | CEREBRAL-CORTEX | DEFICIENCY | INBORN-ERRORS | THERAPY | PLASMA | URINE | GENETICS & HEREDITY | ARGININE | MUTATIONS | Metabolites | Index Medicus | Metabolomics
Journal Article
Pediatric Clinics of North America, ISSN 0031-3955, 04/2018, Volume 65, Issue 2, pp. 389 - 405
Newborn screening programs aim to achieve presymptomatic diagnosis of treatable disorders allowing for early initiation of medical care to prevent or reduce... 
Tandem mass spectroscopy | Newborn screening | Inborn errors of metabolism | PHENYLKETONURIA | DRIED-BLOOD SPOTS | DISORDERS | TANDEM MASS-SPECTROMETRY | DEFICIENCY | INBORN-ERRORS | METABOLISM | DNA | DISEASE | PEDIATRICS | OUTCOMES | Metabolism, Inborn Errors - diagnosis | Neonatal Screening - methods | Humans | Infant, Newborn
Journal Article
Genetics in Medicine, ISSN 1098-3600, 03/2017, Volume 19, Issue 3, pp. 362 - 363
Journal Article
FRONTIERS IN NEUROSCIENCE, ISSN 1662-453X, 05/2019, Volume 13, p. 394
Broad-scale untargeted biochemical phenotyping is a technology that supplements widely accepted assays, such as organic acid, amino acid, and acylcarnitine... 
2-pyrrolidinone | MRI | vigabatrin | GABA-transaminase deficiency | ABAT | inborn error of metabolism | HYDROXYBUTYRATE | NEUROSCIENCES | DEHYDROGENASE | BRAIN GABA | INBORN-ERRORS | neurometabolic | PLASMA | GABA | 4-aminobutyrate aminotransferase deficiency | SEMIALDEHYDE | GAMMA-AMINOBUTYRIC-ACID | neurotransmitter | Ethylenediaminetetraacetic acid | Seizures (Medicine) | Diagnosis
Journal Article
2011, Advances in oto-rhino-laryngology, ISBN 9783805596688, Volume 70.
Web Resource
The American Journal of Human Genetics, ISSN 0002-9297, 08/2015, Volume 97, Issue 2, pp. 199 - 215
Journal Article
Clinics in Perinatology, ISSN 0095-5108, 06/2015, Volume 42, Issue 2, pp. xxi - xxii
Journal Article
Clinics in perinatology, ISSN 0095-5108, 06/2015, Volume 42, Issue 2, pp. xxi - xxii
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 02/2015, Volume 125, Issue 2, pp. 636 - 636
Cornelia de Lange syndrome (CdLS) is a genetically heterogeneous disorder that presents with extensive phenotypic variability, including facial dysmorphism,... 
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 2016, Volume 99, pp. 704 - 710
GNB5 encodes the G protein β subunit 5 and is involved in inhibitory G protein signaling. Here, we report mutations in GNB5 that are associated with heart-rate... 
Journal Article