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Human Mutation, ISSN 1059-7794, 12/2013, Volume 34, Issue 12, pp. 1632 - 1641
Journal Article
Neuroimage, ISSN 1053-8119, 2006, Volume 29, Issue 2, pp. 493 - 504
Journal Article
European Journal of Radiology, ISSN 0720-048X, 2016, Volume 88, pp. 82 - 87
Journal Article
Liver Transplantation, ISSN 1527-6465, 11/2017, Volume 23, Issue 11, pp. 1440 - 1450
Journal Article
Endocrine Regulations, ISSN 1210-0668, 10/2017, Volume 51, Issue 4, pp. 216 - 219
Cerebral germinoma is rare. Although the imaging of the germinoma is very evocative, it’s very polymorphic clinical expression is at the origin of misguided... 
panhypopituitarism | diabetes insipidus | intracerebral germinoma | Panhypopituitarism | Diabetes insipidus | Intracerebral germinoma | Germinoma - diagnosis | Magnetic Resonance Imaging | Brain Neoplasms - diagnosis | Humans | Diabetes Insipidus | Female | Child
Journal Article
Journal of Clinical Immunology, ISSN 0271-9142, 4/2016, Volume 36, Issue 3, pp. 220 - 234
Spondyloenchondrodysplasia is a rare immuno-osseous dysplasia caused by biallelic mutations in ACP5. We aimed to provide a survey of the skeletal, neurological... 
type I interferon | Medical Microbiology | Biomedicine | Immunology | tartrate-resistant acid phosphatase (TRAP) | Infectious Diseases | Internal Medicine | ACP5 | interferon signature | SPENCD/SPENCDI | Spondyloenchondrodysplasia | RNASEH2A | CEREBRAL CALCIFICATIONS | PHENOTYPES | IMMUNOLOGY | DEFICIENCY | IMMUNE DYSREGULATION | ENCHONDROMATOSIS | SPONDYLOMETAPHYSEAL DYSPLASIA | AUTOIMMUNITY | EXPRESSION SIGNATURE | IMMUNODEFICIENCY | Bone and Bones - pathology | Osteochondrodysplasias - pathology | Purpura, Thrombocytopenic, Idiopathic - genetics | Intellectual Disability - immunology | Humans | Child, Preschool | Male | Autoantibodies - biosynthesis | Interferon Type I - immunology | Intellectual Disability - genetics | Autoimmune Diseases - genetics | Osteochondrodysplasias - genetics | Purpura, Thrombocytopenic, Idiopathic - immunology | Purpura, Thrombocytopenic, Idiopathic - pathology | Lupus Erythematosus, Systemic - immunology | Adult | Female | Tartrate-Resistant Acid Phosphatase - immunology | Autoimmune Diseases - pathology | Child | Gene Expression | Osteochondrodysplasias - immunology | Autoimmune Diseases - immunology | Intellectual Disability - pathology | Genotype | Phenotype | Pedigree | Lupus Erythematosus, Systemic - genetics | Adolescent | Alleles | Brain - pathology | Interferon Type I - genetics | Bone and Bones - immunology | Mutation | Tartrate-Resistant Acid Phosphatase - deficiency | Tartrate-Resistant Acid Phosphatase - genetics | Brain - immunology | Lupus Erythematosus, Systemic - pathology | Autoimmunity | SPENCDI | Original | SPENCD
Journal Article
Plastic and Reconstructive Surgery, ISSN 0032-1052, 10/2015, Volume 136, Issue 4S Suppl, pp. 38 - 38
Journal Article
Insights into Imaging, ISSN 1869-4101, 12/2014, Volume 5, Issue 6, pp. 645 - 655
Benign bone tumours in children are frequent lesions, often with a typical and very identifiable radiological presentation. However, their natural evolution... 
Paediatric | Medicine & Public Health | Diagnostic Radiology | Pitfalls | Bone tumour | Imaging | Benign | Internal Medicine | Interventional Radiology | Imaging / Radiology | Ultrasound | Neuroradiology | Diagnosis | Tumors
Journal Article