Browse Items (3 total)
- Tags: Gene Deletion
Family-oriented Palliative Care: Parents' Perspective And Experience
Tags: 2016, Brain Damage, Child, Chromosome Disorder, Chromosome Disorders, Complication, Controlled Study, Dyspnea, Family Study, Gene Deletion, Hospice, Hospital, Human, June 2017 List, Length Of Stay, Life Expectancy, Medical Service, Metabolic Disorder, Neuromuscular Disease, Neuropediatrics, Only Child, Pain, Palliative Care, Palliative Therapy, Pietz J, Quality Of Life, Seizure, Spasticity, Spiritual Care, Symptom
Correlates of maladaptive behavior in individuals with 5p- (cri du chat) syndrome
Tags: 1997, Adjustment Disorders/etiology, Adolescent, Adult, Aggression, Analysis of Variance, behavioral problems, characteristics, Child, Child Preschool, Child Behavior Disorders/etiology, Clarke D J, Cri-du-chat, Cri-du-Chat Syndrome/genetics/psychology, Developmental Medicine and Child Neurology, Dykens E M, Female, Gene Deletion, Humans, hyperactivity, impulsivity, Intellectual Disability/psychology, low mood, Male, Mental Disorders/etiology, Mood, pain behaviors, Psychiatric Status Rating Scales, repetitive language use, Risk Factors, self-injury, Surveys And Questionnaires, Trajectory, Translocation Genetic
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