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Arthritis & rheumatology (Hoboken, N.J.), ISSN 2326-5191, 11/2016, Volume 68, Issue 11, pp. 2795 - 2805
Objective Mevalonate kinase deficiency (MKD) is a rare metabolic disease characterized by recurrent inflammatory episodes. This study was undertaken to... 
Life Sciences & Biomedicine | Rheumatology | Science & Technology | Arthralgia - etiology | Uveitis - etiology | Humans | Child, Preschool | Lymphadenopathy - etiology | Male | Arthralgia - physiopathology | Arthritis - genetics | Stomatitis, Aphthous - genetics | Cerebellar Diseases - physiopathology | Amyloidosis - genetics | Skin Diseases - physiopathology | Amyloidosis - etiology | Child | Stomatitis, Aphthous - etiology | Infant, Newborn | Myalgia - physiopathology | Amyloidosis - physiopathology | Genotype | Headache - physiopathology | Vomiting - genetics | Phenotype | Diarrhea - genetics | Abdominal Pain - genetics | Adolescent | Age of Onset | Intellectual Disability - etiology | Uveitis - genetics | Vomiting - physiopathology | Conjunctivitis - etiology | Conjunctivitis - genetics | Arthritis - physiopathology | Headache - etiology | Skin Diseases - genetics | Mevalonate Kinase Deficiency - physiopathology | Myalgia - genetics | Cerebellar Diseases - etiology | Diarrhea - physiopathology | Infant | Mevalonate Kinase Deficiency - genetics | Intellectual Disability - genetics | Pharyngitis - genetics | Arthritis - etiology | Female | Registries | Retrospective Studies | Arthralgia - genetics | Pharyngitis - physiopathology | Abdominal Pain - etiology | Pharyngitis - etiology | Lymphadenopathy - genetics | Abdominal Pain - physiopathology | Myalgia - etiology | Phosphotransferases (Alcohol Group Acceptor) - genetics | Headache - genetics | Intellectual Disability - physiopathology | Skin Diseases - etiology | Cerebellar Diseases - genetics | Conjunctivitis - physiopathology | Mevalonate Kinase Deficiency - complications | Stomatitis, Aphthous - physiopathology | Vomiting - etiology | Diarrhea - etiology | Lymphadenopathy - physiopathology | Uveitis - physiopathology | Kinases | Genotype & phenotype | Index Medicus | Abridged Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 12/2014, Volume 95, Issue 6, pp. 729 - 735
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 02/2018, Volume 176, Issue 2, pp. 465 - 469
Journal Article
PloS one, ISSN 1932-6203, 12/2016, Volume 11, Issue 12, pp. e0165625 - e0165625
Background To assess factors associated with disability in a rural district of Bangladesh... 
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Blood Pressure | Prevalence | Blindness - physiopathology | Humans | Middle Aged | Male | Movement Disorders - epidemiology | Socioeconomic Factors | Rural Health - statistics & numerical data | Aged, 80 and over | Adult | Disabled Persons - statistics & numerical data | Female | Hypertension - epidemiology | Intellectual Disability - epidemiology | Rural Population - statistics & numerical data | Deafness - epidemiology | Fasting | Deafness - physiopathology | Bangladesh - epidemiology | Blindness - epidemiology | Hypertension - physiopathology | Intellectual Disability - physiopathology | Movement Disorders - physiopathology | Health Surveys | Aged | Blood Glucose - metabolism | Type 2 diabetes | Disability | Complications and side effects | Care and treatment | Research | Risk factors | Health care | Disabled people | Community development | Mental disorders | Anthropometry | Income | Mental health | Impairment | Science | Disabilities | Systematic review | Males | Epidemiology | Blood | Domestic violence | Body mass index | Demographics | Education | Older people | Population | Blood pressure | Public health | Age | Hypertension | Social sciences | Diabetes mellitus | Library cataloging | Attitudes | Sex differences | Preventive medicine | Estimates | Studies | Hearing | Body mass | Body size | Socioeconomic factors | Data collection | Eye diseases | Adults | Diabetes | Females | Index Medicus
Journal Article
Journal Article
Epileptic disorders, ISSN 1294-9361, 06/2016, Volume 18, Issue 2, pp. 123 - 136
Aim. KCNH1 mutations have been identified in patients with Zimmermann-Laband syndrome and Temple-Baraitser syndrome, as well as patients with uncharacterized syndromes with intellectual disability and overlapping features... 
KCNH1-related encephalopathy | undefined intellectual disability | Zimmermann-Laband syndrome | genetic epilepsy | MICE | Temple-Baraitser syndrome | MUTATIONS | Temple‐Baraitser syndrome | KCNH1‐related encephalopathy | Zimmermann‐Laband syndrome | KCNH1-Related encephalopathy | Zimmermann-laband syndrome | Temple-baraitser syndrome | Genetic epilepsy | Undefined intellectual disability | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Hallux - abnormalities | Humans | Thumb - physiopathology | Child, Preschool | Fibromatosis, Gingival - genetics | Infant | Male | Abnormalities, Multiple - drug therapy | Electroencephalography | Craniofacial Abnormalities - physiopathology | Epilepsy - physiopathology | Fibromatosis, Gingival - drug therapy | Nails, Malformed - physiopathology | Intellectual Disability - genetics | Young Adult | Adult | Epilepsy - genetics | Female | Child | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Brain - physiopathology | Anticonvulsants - therapeutic use | Craniofacial Abnormalities - drug therapy | Nails, Malformed - drug therapy | Ether-A-Go-Go Potassium Channels - genetics | Abnormalities, Multiple - physiopathology | Syndrome | Nails, Malformed - genetics | Hand Deformities, Congenital - drug therapy | Intellectual Disability - drug therapy | Intellectual Disability - physiopathology | Fibromatosis, Gingival - physiopathology | Hand Deformities, Congenital - genetics | Hand Deformities, Congenital - physiopathology | Adolescent | Epilepsy - drug therapy | Hallux - physiopathology | Thumb - abnormalities | Convulsions & seizures | Mutation | Intellectual disabilities | Epilepsy | Index Medicus
Journal Article
European journal of human genetics : EJHG, ISSN 1018-4813, 07/2013, Volume 21, Issue 7, pp. 736 - 742
Journal Article
Journal of human genetics, ISSN 1434-5161, 04/2017, Volume 62, Issue 4, pp. 465 - 471
Kaufman oculo-cerebro-facial syndrome (KOS) is caused by recessive UBE3B mutations and presents with microcephaly, ocular abnormalities, distinctive facial morphology, low cholesterol levels and intellectual disability... 
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Eczema - diagnosis | Limb Deformities, Congenital - genetics | Eczema - genetics | Microcephaly - genetics | Face - abnormalities | Humans | Child, Preschool | Limb Deformities, Congenital - physiopathology | Male | Hand Deformities, Congenital - diagnosis | Intellectual Disability - genetics | Micrognathism - diagnosis | Facies | Adult | Female | Microcephaly - physiopathology | Child | Neck - physiopathology | Abnormalities, Multiple - genetics | Eczema - physiopathology | Micrognathism - physiopathology | Diagnosis, Differential | Eye Abnormalities - diagnosis | Micrognathism - genetics | Growth Disorders - diagnosis | Microcephaly - diagnosis | Nerve Tissue Proteins | Neck - abnormalities | Eye Abnormalities - genetics | Sequence Analysis, DNA | Abnormalities, Multiple - physiopathology | Face - physiopathology | Intellectual Disability - physiopathology | Membrane Proteins | Carrier Proteins - genetics | Limb Deformities, Congenital - diagnosis | Hand Deformities, Congenital - genetics | Hand Deformities, Congenital - physiopathology | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Eye Abnormalities - physiopathology | Mutation | Growth Disorders - genetics | Ubiquitin-Protein Ligases - genetics | Pathology, Molecular | Karyotype | Growth Disorders - physiopathology | Index Medicus | small phalanges | UBE3B | Kaufman oculo-cerebro-facial syndrome | DOORS | whole exome sequencing
Journal Article
Journal Article