Browse Items (4 total)
- Tags: gene
Clinical and genetic characteristics of Tunisian children with infantile nephropathic cystinosis
Tags: 2023, 2023 SE5 - Low Resource Setting, Achour A, Article, Ben Youssef S, bicarbonate/dt [Drug Therapy], bicarbonate/pv [Special Situation for Pharmacovigilance], calcitriol/dt [Drug Therapy], calcitriol/pv [Special Situation for Pharmacovigilance], Child, citrate potassium/dt [Drug Therapy], citrate potassium/pv [Special Situation for Pharmacovigilance], Clinical Article, Clinical Feature, Controlled Study, CTNS gene, cystine/ec [Endogenous Compound], cystinosis/di [Diagnosis], cystinosis/dt [Drug Therapy], El Younsi M, exon, Fanconi renotubular syndrome, Female, founder mutation, Gargah T, gene, Gene Deletion, gene mutation, genetic analysis, genetic trait, Hammi Y, heterozygosity, homozygosity, Human, hypothyroidism/dt [Drug Therapy], Infant, infantile nephropathic cystinosis/di [Diagnosis], infantile nephropathic cystinosis/dt [Drug Therapy], Information Processing, Kharrat M, kidney disease/di [Diagnosis], kidney disease/dt [Drug Therapy], M'Rad R, Maazoul F, Male, mercaptamine/dt [Drug Therapy], mercaptamine/pv [Special Situation for Pharmacovigilance], molecular diagnosis, molecular fingerprinting, Only Child, Ouertani I, Palliative Therapy, Pediatric Nephrology, pediatric patient, Prenatal Diagnosis, Preschool Child, Retrospective Study, RNA splicing, Sanger sequencing, thyroid hormone/dt [Drug Therapy], thyroid hormone/pv [Special Situation for Pharmacovigilance], Trabelsi M, Tunisian
Sleep disorders in Cornelia de Lange syndrome
Tags: 2016, Adolescent, Adult, Ajmone P, American Journal of Medical Genetics Part C - Seminars in Medical Genetics, Article, body mass, Canevini M P, characteristics, Child, Clinical Article, Comorbidity, Controlled Study, De Lange syndrome, Epilepsy, Female, Fossati C, Furia F, Gastroesophageal Reflux, gene, gene mutation, Gervasini C, HDAC8 gene, histone deacetylase 8, Human, Intellectual Impairment, Kullman G, Male, Masciadri M, NIPBL gene, Priority Journal, problem behavior, RAD21 gene, Russo S, Selicorni A, sleep disorder, sleep disturbance/disorders, SMC1A gene, SMC3 gene, Taiana M, Trajectory, Turner K, Vignoli A, Zambrelli E
Self-injurious behavior and tuberous sclerosis complex: Frequency and possible associations in a population of 257 patients
Tags: 2008, adults, Aggression, Autism, behavioral problems, Behavioral Sciences, characteristics, Disabilities, Epilepsy, Epilepsy and Behavior, Frontal, frontal-lobe seizures, gene, Halpern E F, identification, Kopp C M C, lobe, Major P, Montenegro M A, Muzykewicz D A, Neurosciences & Neurology, Newberry P, Psychiatry, Self-Injurious behavior, Staley B A, Thiele E A, Trajectory, Tuber location, Tuberous Sclerosis, Tuberous sclerosis complex
Pilot Validation of the Tuberous Sclerosis-Associated Neuropsychiatric Disorders (TAND) Checklist
Tags: 2015, academic, attention deficits, Autism, Behavior, behavioral problems, Children, Cognition, complex consensus conference, de Vries P J, diagnostic-criteria, gene, identification, Jansen A, Leclezio L, Mental Health, neuropsychology, Neurosciences & Neurology, Pediatric Neurology, Pediatrics, Population, psychosocial, Recommendations, sample, scale development, TAND, tool development, Tuberous Sclerosis, Tuberous sclerosis complex, Whittemore V H