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Journal of Clinical Immunology, ISSN 0271-9142, 8/2014, Volume 34, Issue 6, pp. 627 - 632
Journal Article
European Journal of Endocrinology, ISSN 0804-4643, 03/2016, Volume 174, Issue 3, pp. 325 - 333
Objective: Adults with X-linked hypophosphatemia (XLH) may suffer from skeletal symptoms leading to functional disability. No data on their quality of life... 
RHEUMATOID-ARTHRITIS | PATIENT INDEX DATA | BIPLANAR IMAGING-SYSTEM | BONE-FORMATION | CLINICAL-TRIALS | ENDOCRINOLOGY & METABOLISM | ANKYLOSING-SPONDYLITIS | ROUTINE ASSESSMENT | AXIAL SPONDYLOARTHRITIS | HEALTH-ASSESSMENT QUESTIONNAIRE | DISEASE-ACTIVITY SCORE | Osteoarthritis, Spine - diagnostic imaging | Spondylarthropathies - diagnostic imaging | Prospective Studies | Spondylarthritis - diagnostic imaging | Osteoarthritis, Spine - epidemiology | Humans | Middle Aged | Spondylarthritis - physiopathology | Fractures, Bone - epidemiology | Male | Familial Hypophosphatemic Rickets - diagnostic imaging | Osteoarthritis, Knee - epidemiology | Osteoarthritis - physiopathology | Case-Control Studies | Rheumatic Diseases - epidemiology | Osteoarthritis - epidemiology | Osteoarthritis, Spine - physiopathology | Familial Hypophosphatemic Rickets - epidemiology | Osteoarthritis, Hip - epidemiology | Adult | Female | Genetic Diseases, X-Linked - diagnostic imaging | Fractures, Bone - diagnostic imaging | Genetic Diseases, X-Linked - physiopathology | Spondylarthropathies - physiopathology | Spondylarthritis - epidemiology | Osteoarthritis, Hip - physiopathology | Genetic Diseases, X-Linked - epidemiology | Familial Hypophosphatemic Rickets - physiopathology | Osteoarthritis - diagnostic imaging | Rheumatic Diseases - diagnostic imaging | Osteoarthritis, Knee - diagnostic imaging | Radiography | Osteoarthritis, Hip - diagnostic imaging | Spondylarthropathies - epidemiology | Fractures, Bone - physiopathology | Quality of Life | Osteoarthritis, Knee - physiopathology | Cohort Studies | Index Medicus
Journal Article
Journal Article
Pediatric Blood & Cancer, ISSN 1545-5009, 09/2015, Volume 62, Issue 9, pp. 1601 - 1608
BackgroundWiskott-Aldrich syndrome (WAS) and X-linked thrombocytopenia (XLT) are caused by mutations of the WAS gene. The genotype-phenotype association of WAS... 
genotype–phenotype correlation | Wiskott–Aldrich syndrome | clinical characteristic | mutation analysis | WASp | Wiskott-Aldrich syndrome | Clinical characteristic | Genotype-phenotype correlation | Mutation analysis | GENE-MUTATIONS | CONGENITAL NEUTROPENIA | genotype-phenotype correlation | IN-VIVO REVERSION | SYNDROME PROTEIN WASP | SOMATIC MOSAICISM | BLOOD MONONUCLEAR-CELLS | MISSENSE MUTATIONS | SOCIETY-FOR-IMMUNODEFICIENCIES | ONCOLOGY | PEDIATRICS | FLOW-CYTOMETRIC ANALYSIS | HEMATOLOGY | MARROW TRANSPLANTATION | Thrombocytopenia - epidemiology | Wiskott-Aldrich Syndrome Protein - genetics | Protein Biosynthesis | Wiskott-Aldrich Syndrome Protein - deficiency | Diseases in Twins - genetics | Wiskott-Aldrich Syndrome - epidemiology | Humans | Child, Preschool | Databases, Genetic | Infant | Male | Wiskott-Aldrich Syndrome - genetics | Thrombocytopenia - genetics | Wiskott-Aldrich Syndrome - therapy | Flow Cytometry | Wiskott-Aldrich Syndrome Protein - biosynthesis | DNA Mutational Analysis | Genetic Diseases, X-Linked - genetics | Transcription, Genetic | Infant, Newborn | Genetic Diseases, X-Linked - epidemiology | Gene Expression Regulation | Hematopoietic Stem Cell Transplantation | Genotype | Survival Rate | Treatment Outcome | China - epidemiology | Phenotype | Age of Onset | Mutation | Index Medicus
Journal Article
2015 37th Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC), ISSN 1094-687X, 08/2015, Volume 2015-, pp. 3993 - 3996
To describe the epidemiology of X-linked recessive diseases we developed a discrete time, structured, non linear mathematical model. The model allows for de... 
Pediatrics | Sociology | Genetics | Mathematical model | Statistics | Biological cells | Diseases | Chromosomes, Human, X | Models, Theoretical | Genetic Diseases, X-Linked - epidemiology | Humans | Alleles | Female | Male | Models, Genetic | Polymorphism, Genetic | Index Medicus | Mutations | Conferences | Mathematical analysis | Mathematical models | Biology | Epidemiology | Convergence
Conference Proceeding
Journal of Clinical Immunology, ISSN 0271-9142, 8/2014, Volume 34, Issue 6, pp. 601 - 606
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 12/2016, Volume 57, Issue 15, pp. 6861 - 6869
Journal Article
Molecular Immunology, ISSN 0161-5890, 06/2009, Volume 46, Issue 10, pp. 2140 - 2146
Journal Article