Brain magnetic resonance imaging findings in smith–lemli–opitz syndrome - Lee - 2013 - American Journal of Medical Genetics Part A - Wiley Online Library
Carey-Fineman-Ziter Syndrome: A MYMK-Related Myopathy Mimicking Brainstem Dysgenesis - IOS Press
Cells | Free Full-Text | Cerebral MRI and Clinical Findings in Children with PTEN Hamartoma Tumor Syndrome: Can Cerebral MRI Scan Help to Establish an Earlier Diagnosis of PHTS in Children?
Decompressive Surgery for Craniovertebral Foramen Magnum Stenosis with Medullary Compression in Paediatric Skeletal Dysplasia Syndromes
RSNA 2017: Spotlighting Some Memorable Moments
Segmental Spinal Dysgenesis
Update on neuroimaging phenotypes of mid-hindbrain malformations | SpringerLink
Brain magnetic resonance imaging findings in smith–lemli–opitz syndrome - Lee - 2013 - American Journal of Medical Genetics Part A - Wiley Online Library
Brain magnetic resonance imaging findings in smith–lemli–opitz syndrome - Lee - 2013 - American Journal of Medical Genetics Part A - Wiley Online Library
Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment | Journal of Human Genetics
Segmental Spinal Dysgenesis | Ochsner Journal
Decompressive Surgery for Craniovertebral Foramen Magnum Stenosis with Medullary Compression in Paediatric Skeletal Dysplasia Syndromes
dStream Small Extremity 16ch coil | Philips
Cells | Free Full-Text | Cerebral MRI and Clinical Findings in Children with PTEN Hamartoma Tumor Syndrome: Can Cerebral MRI Scan Help to Establish an Earlier Diagnosis of PHTS in Children?
Fig 1. | Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients | American Journal of Neuroradiology
Mitochondrial aminoacyl-tRNA synthetase disorders: an emerging group of developmental disorders of myelination | Journal of Neurodevelopmental Disorders | Full Text
Frontiers | Multi-Modal Imaging to Assess the Interaction Between Inflammation and Bone Damage Progression in Inflammatory Arthritis
Brain magnetic resonance imaging findings in smith–lemli–opitz syndrome - Lee - 2013 - American Journal of Medical Genetics Part A - Wiley Online Library
ISMRM19 Posters - Neuro
Segmental Spinal Dysgenesis: Case Report and Literature Review
Frontiers | Case report: PLPHP deficiency, a rare but important cause of B6-responsive disorders: A report of three novel individuals and review of 51 cases
Megalencephaly-capillary malformation syndrome and associated hydrocephalus: treatment options and revision of the literature | SpringerLink
A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41‐q42 deletion phenotype - Balak - 2018 -
Determinants of Indices of Cerebral Volume in Former Very Premature Infants at Term Equivalent Age | PLOS ONE
Imaging of Skeletal Disorders Caused by Fibroblast Growth Factor Receptor Gene Mutations | RadioGraphics
Brain magnetic resonance imaging findings in smith–lemli–opitz syndrome - Lee - 2013 - American Journal of Medical Genetics Part A - Wiley Online Library
Megalencephaly-capillary malformation syndrome and associated hydrocephalus: treatment options and revision of the literature | SpringerLink
