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Journal Article
Osteoporosis international, ISSN 1433-2965, 08/2018, Volume 30, Issue 3, pp. 685 - 689
Raine syndrome is characterized by FGF23-mediated hypophosphatemic osteomalacia with osteosclerosis caused by mutations in the FAM20C gene. We report a case of... 
High bone mass | Medicine & Public Health | Orthopedics | Rheumatology | FAM20C | Osteomalacia | Endocrinology | Raine syndrome | Life Sciences & Biomedicine | Endocrinology & Metabolism | Science & Technology | Microcephaly - genetics | Casein Kinase I - genetics | Humans | Male | Cleft Palate - genetics | Mutation, Missense | Osteonecrosis - diagnostic imaging | Osteonecrosis - genetics | Knee Joint - pathology | Exophthalmos - genetics | Microcephaly - physiopathology | Osteosclerosis - genetics | Cleft Palate - diagnostic imaging | Osteosclerosis - diagnostic imaging | Abnormalities, Multiple - genetics | Bone Density | Extracellular Matrix Proteins - genetics | Knee Joint - diagnostic imaging | Abnormalities, Multiple - diagnostic imaging | Exophthalmos - physiopathology | Cleft Palate - physiopathology | Exophthalmos - diagnostic imaging | Microcephaly - diagnostic imaging | Abnormalities, Multiple - physiopathology | Radiography | Magnetic Resonance Imaging | Aged | Osteosclerosis - physiopathology | Osteonecrosis - physiopathology | Gene mutations | Physiological aspects | Bones | Genetic aspects | Research | Risk factors | Necrosis | Knee | Dual energy X-ray absorptiometry | Radius | Phenotypes | Splicing | Fibroblast growth factor 23 | Spine (lumbar) | Case reports | Osteonecrosis | Bone turnover | Bone (trabecular) | Hip | Bone mass | Missense mutation | Computed tomography | Vitamin D | Tibia | Osteosclerosis | Hypophosphatemia | Mutation | Geriatrics
Journal Article
Multiple sclerosis, ISSN 1477-0970, 07/2016, Volume 5, Issue 5, pp. 363 - 368
Journal Article
Brain structure & function, ISSN 1863-2653, 6/2016, Volume 221, Issue 5, pp. 2487 - 2491
Cortical development is a complex process where a multitude of factors, including cadherins, plays an important role and where disruptions are known to have... 
Neurology | Neurosciences | Biomedicine | Left–right differentiation | Functional cerebral asymmetries | Dichotic listening | Cell Biology | Lateralization | Van maldergem syndrome | Neurosciences & Neurology | Life Sciences & Biomedicine | Anatomy & Morphology | Science & Technology | Humans | Joint Instability - genetics | Foot Deformities, Congenital - genetics | Male | Electroencephalography | Craniofacial Abnormalities - physiopathology | Craniofacial Abnormalities - psychology | Hand Deformities, Congenital - psychology | Cerebral Cortex - physiopathology | Intellectual Disability - genetics | Tumor Suppressor Proteins - genetics | Foot Deformities, Congenital - physiopathology | Joint Instability - psychology | Cadherins - genetics | Child | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Acoustic Stimulation | Abnormalities, Multiple - psychology | Cadherins - physiology | Functional Laterality | Abnormalities, Multiple - physiopathology | Evoked Potentials, Auditory | Intellectual Disability - physiopathology | Tumor Suppressor Proteins - physiology | Hand Deformities, Congenital - genetics | Hand Deformities, Congenital - physiopathology | Adolescent | Dichotic Listening Tests | Intellectual Disability - psychology | Mutation | Joint Instability - physiopathology | Foot Deformities, Congenital - psychology | Neurons | Psychophysiology | Stem cells | Medical genetics | Neurophysiology | Mammals | Brain | Index Medicus
Journal Article
Gut, ISSN 0017-5749, 08/2016, Volume 65, Issue 8, pp. 1306 - 1313
Journal Article
American journal of medical genetics. Part C, Seminars in medical genetics, ISSN 1552-4868, 03/2015, Volume 169, Issue 1, pp. 6 - 22
Joint hypermobility syndrome/Ehlers–Danlos syndrome hypermobility type (JHS/EDS‐HT) is an evolving and protean disorder mostly recognized by generalized joint... 
heritable connective tissue disorders | differential diagnosis | joint hypermobility syndrome | diagnostic flow chart | Ehlers–Danlos syndrome hypermobility type | Joint hypermobility syndrome | Diagnostic flow chart | Differential diagnosis | Ehlers-Danlos syndrome hypermobility type | Heritable connective tissue disorders | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Osteogenesis Imperfecta - diagnosis | Humans | Marfan Syndrome - physiopathology | Skin Abnormalities - diagnosis | Ehlers-Danlos Syndrome - physiopathology | Skin Diseases, Genetic - diagnosis | Osteogenesis Imperfecta - physiopathology | Surveys and Questionnaires | Connective Tissue Diseases - physiopathology | Skin Abnormalities - physiopathology | Meningocele - physiopathology | Diagnosis, Differential | Joint Instability - diagnosis | Connective Tissue Diseases - diagnosis | Loeys-Dietz Syndrome - diagnosis | Loeys-Dietz Syndrome - physiopathology | Abnormalities, Multiple - physiopathology | Skin Diseases, Genetic - physiopathology | Abnormalities, Multiple - diagnosis | Arteries - physiopathology | Marfan Syndrome - diagnosis | Vascular Malformations - diagnosis | Ehlers-Danlos Syndrome - diagnosis | Joint Instability - physiopathology | Meningocele - diagnosis | Vascular Malformations - physiopathology | Arteries - abnormalities | Comparative analysis | Medical genetics | Index Medicus
Journal Article
Human mutation, ISSN 1059-7794, 2018, Volume 39, Issue 9, pp. 1226 - 1237
Malan syndrome is an overgrowth disorder described in a limited number of individuals. We aim to delineate the entity by studying a large group of affected... 
Marshall‐Smith syndrome | phenotype | NFIX | Sotos syndrome | Malan syndrome | Weaver syndrome | phenotype‐genotype | phenotype-genotype | Marshall-Smith syndrome | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Humans | Child, Preschool | Male | Developmental Disabilities - genetics | Bone Diseases, Developmental - genetics | Craniofacial Abnormalities - physiopathology | NFI Transcription Factors - genetics | Bone Diseases, Developmental - physiopathology | Mutation, Missense - genetics | Intellectual Disability - genetics | Young Adult | Septo-Optic Dysplasia - genetics | Sotos Syndrome - physiopathology | Congenital Hypothyroidism - genetics | Adult | Female | Child | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Chromosome Deletion | Megalencephaly - genetics | Developmental Disabilities - physiopathology | Megalencephaly - physiopathology | Sotos Syndrome - genetics | Septo-Optic Dysplasia - physiopathology | Exons - genetics | Congenital Hypothyroidism - physiopathology | Abnormalities, Multiple - physiopathology | Intellectual Disability - physiopathology | Phenotype | Hand Deformities, Congenital - genetics | Hand Deformities, Congenital - physiopathology | Adolescent | Gene mutations | Epilepsy | Codon | Body height | Phenotypes | Stop codon | Anxiety | Children | Genotypes | Life Sciences
Journal Article
European journal of pediatrics, ISSN 1432-1076, 07/2010, Volume 169, Issue 12, pp. 1523 - 1528
Journal Article