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Molecular Psychiatry, ISSN 1359-4184, 04/2017, Volume 22, Issue 4, pp. 615 - 624
Journal Article
Genome Biology, ISSN 1474-7596, 06/2015, Volume 16, Issue 1, p. 134
Journal Article
Cell Reports, ISSN 2211-1247, 01/2015, Volume 10, Issue 2, pp. 148 - 161
Journal Article
Nature Genetics, ISSN 1061-4036, 2014, Volume 46, Issue 6, pp. 646 - 651
Journal Article
Science, ISSN 0036-8075, 3/2011, Volume 331, Issue 6024, pp. 1571 - 1576
Journal Article
Genetics in Medicine, ISSN 1098-3600, 12/2018, Volume 20, Issue 12, pp. 1609 - 1616
Purpose: To describe our experience with a large cohort (411 patients from 288 families) of various forms of skeletal dysplasia who were molecularly... 
osteogenesis imperfecta | craniosynostosis | Toriello–Carey | Toriello-Carey | RECESSIVE OSTEOGENESIS IMPERFECTA | CLASSIFICATION | DISORDERS | CLINICAL GENOMICS | HETEROGENEITY | GENETICS | NOSOLOGY | GENETICS & HEREDITY | MUTATIONS | WNT
Journal Article
BMC Public Health, ISSN 1471-2458, 04/2018, Volume 18, Issue 1, pp. 503 - 12
Journal Article
Journal Article
Human Genetics, ISSN 0340-6717, 11/2017, Volume 136, Issue 11, pp. 1419 - 1429
Journal Article
Clinical Genetics, ISSN 0009-9163, 02/2019, Volume 95, Issue 2, pp. 310 - 319
Defects in the peroxisomes biogenesis and/or function result in peroxisomal disorders. In this study, we describe the largest Arab cohort to date (72 families)... 
Zellweger syndrome | genotype/phenotype correlation | peroxisomal disorder | VLCFA | founder mutation | DIAGNOSIS | BIOGENESIS DISORDERS | ADRENOLEUKODYSTROPHY | IDENTIFICATION | ZELLWEGER SPECTRUM | DEFICIENCY | GENOMICS | CLINICAL-MANIFESTATIONS | BIOCHEMISTRY | GENETICS & HEREDITY | MUTATIONS | Peroxisomes | Phenotypes | Spastic paraparesis | Epilepsy | Substantia alba | Fatty acids | Survival | Genotypes | Reductase
Journal Article