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
Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment | Journal of Human Genetics
Decompressive Surgery for Craniovertebral Foramen Magnum Stenosis with Medullary Compression in Paediatric Skeletal Dysplasia Sy
Mitochondrial aminoacyl-tRNA synthetase disorders: an emerging group of developmental disorders of myelination | Journal of Neurodevelopmental Disorders | Full Text
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Segmental Spinal Dysgenesis: Case Report and Literature Review
Determinants of Indices of Cerebral Volume in Former Very Premature Infants at Term Equivalent Age | PLOS ONE
Decompressive Surgery for Craniovertebral Foramen Magnum Stenosis with Medullary Compression in Paediatric Skeletal Dysplasia Sy
Myelin Water Fraction Imaging of the Brain in Children with Prenatal Alcohol Exposure - McLachlan - 2019 - Alcohol: Clinical and Experimental Research - Wiley Online Library
Segmental Spinal Dysgenesis
A novel homozygous MMP2 mutation in a patient with Torg–Winchester syndrome | Journal of Human Genetics
Decompressive Surgery for Craniovertebral Foramen Magnum Stenosis with Medullary Compression in Paediatric Skeletal Dysplasia Syndromes
Frontiers | Multi-Modal Imaging to Assess the Interaction Between Inflammation and Bone Damage Progression in Inflammatory Arthritis
Megalencephaly-capillary malformation syndrome and associated hydrocephalus: treatment options and revision of the literature | SpringerLink
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
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?
Sarah M. Nikkel's research works | University of British Columbia - Vancouver, Vancouver (UBC) and other places
Study Finds New Gene Mutations that Lead to Enlarged Brain Size, Cancer, Autism, Epilepsy - Neuroscience News
Carey-Fineman-Ziter Syndrome: A MYMK-Related Myopathy Mimicking Brainstem Dysgenesis - IOS Press
Decompressive Surgery for Craniovertebral Foramen Magnum Stenosis with Medullary Compression in Paediatric Skeletal Dysplasia Syndromes
