Found: 663
Select item for more details and to access through your institution.
What Is the Role for Pediatric Endocrinologists in the Management of Skeletal Dysplasias?
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 5, p. e1410, doi. 10.1210/clinem/dgad726
- By:
- Publication type:
- Article
New insights on biomarkers reflecting the genetic deficiency of folate cycle in autism spectrum disorder.
- Published in:
- 2023
- By:
- Publication type:
- Editorial
First description of frequent occurrence of supernumerary lumbar ribs and transitional vertebrae in children with Williams–Beuren syndrome.
- Published in:
- Pediatric Radiology, 2023, v. 53, n. 2, p. 244, doi. 10.1007/s00247-022-05493-6
- By:
- Publication type:
- Article
HUMAN GERMLINE GENOME EDITING: CURSE OR BLESSING?
- Published in:
- Studia Universitatis Babes-Bolyai, Bioethica (2011), 2021, v. 65, p. 13, doi. 10.24193/subbbioethica.2021.spiss.01
- By:
- Publication type:
- Article
Wiedemann–Steiner Syndrome with a Pathogenic Variant in KMT2A from Taiwan.
- Published in:
- Children, 2021, v. 8, n. 11, p. 1, doi. 10.3390/children8110952
- By:
- Publication type:
- Article
Additional Evidence for Neuropsychiatric Manifestations in Mosaic Trisomy 20: A Case Report and Brief Review.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
The Effect of a Fat-Restricted Diet in Four Patients with Familial Chylomicronemia Syndrome: A Long-Term Follow-Up Study.
- Published in:
- Children, 2021, v. 8, n. 11, p. 1, doi. 10.3390/children8111078
- By:
- Publication type:
- Article
Comorbidities associated with genetic abnormalities in children with intellectual disability.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-86131-3
- By:
- Publication type:
- Article
Mandible fracture in a child with osteogenesis imperfecta on bisphosphonates. Open versus closed treatment? A case report.
- Published in:
- Dental Traumatology, 2020, v. 36, n. 6, p. 692, doi. 10.1111/edt.12596
- By:
- Publication type:
- Article
Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 3, p. 1, doi. 10.1101/mcs.a005231
- By:
- Publication type:
- Article
Cognitive Improvements in Children with Prader-Willi Syndrome Following Pitolisant Treatment--Patient Reports.
- Published in:
- Journal of Pediatric Pharmacology & Therapeutics, 2019, v. 24, n. 2, p. 166, doi. 10.5863/1551-6776-24.2.166
- By:
- Publication type:
- Article
Genetic Predictors of Behavioral Weight Loss: Current Status and Future Directions.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Multidisciplinary guidelines for the management of paediatric tracheostomy emergencies.
- Published in:
- 2018
- By:
- Publication type:
- letter
The cognitive and socio-emotional development of 5-year-old children born after PGD.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Using Bayesian methodology to explore the profile of mental health and well-being in 646 mothers of children with 13 rare genetic syndromes in relation to mothers of children with autism.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Anesthetic considerations for scoliosis surgery in a patient with recessive severe/lethal form of osteogenesis imperfecta.
- Published in:
- Pediatric Anesthesia, 2018, v. 28, n. 9, p. 817, doi. 10.1111/pan.13461
- By:
- Publication type:
- Article
Emotional processes and stress in children affected by hereditary angioedema with C1-inhibitor deficiency: a multicenter, prospective study.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Fowler syndrome and fetal MRI findings: a genetic disorder mimicking hydranencephaly/hydrocephalus.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Oral manifestations in Ellis-van Creveld syndrome: a case report.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Reproductive choices: a qualitative study of Dutch Moroccan and Turkish consanguineously married women's perspectives on preconception carrier screening.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Mental Health and Well-Being in Mothers of Children With Rare Genetic Syndromes Showing Chronic Challenging Behavior: A Cross-Sectional and Longitudinal Study.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Karyotype Analyses of Down Syndrome Children in East Priangan Indonesia.
- Published in:
- Journal of International Dental & Medical Research, 2018, v. 11, n. 2, p. 687
- By:
- Publication type:
- Article
Skin Disorders in Egyptian Children with β-Thalassemia Major.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Diagnosis of monogenic liver diseases in childhood by next‐generation sequencing.
- Published in:
- Clinical Genetics, 2018, v. 93, n. 3, p. 665, doi. 10.1111/cge.13120
- By:
- Publication type:
- Article
Understanding the Educational Impact for Children with DiGeorge Syndrome: A Brief Overview.
- Published in:
- Dialog: Journal of the Texas Educational Diagnosticians Association, 2018, v. 47, n. 1, p. 7
- By:
- Publication type:
- Article
Card v. United Kingdom. Does the State Know Best?
- Published in:
- Tulane Journal of International & Comparative Law, 2018, v. 26, n. 2, p. 405
- By:
- Publication type:
- Article
Biotinidase deficiency masquerading as multiple sclerosis?
- Published in:
- Multiple Sclerosis Journal, 2018, v. 24, n. 2, p. 239, doi. 10.1177/1352458517702554
- By:
- Publication type:
- Article
Pyridoxine-sensitive X-linked 'sideroblastic' anaemia in the absence of ring sideroblasts - molecular diagnosis.
- Published in:
- British Journal of Haematology, 2018, v. 180, n. 1, p. 10, doi. 10.1111/bjh.14909
- By:
- Publication type:
- Article
A rare case of Melnick Needles syndrome. Case report and brief review of literature.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Association between CYP2C19 extensive metabolizer phenotype and childhood anti-reflux surgery following failed proton pump inhibitor medication treatment.
- Published in:
- 2018
- By:
- Publication type:
- journal article
A nine-year-old patient affected by chromosomal aberration with the suspicion of juvenile idiopathic arthritis.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Whole Body and CNS Biodistribution of rhHNS in Cynomolgus Monkeys after Intrathecal Lumbar Administration: Treatment Implications for Patients with MPS IIIA.
- Published in:
- International Journal of Molecular Sciences, 2017, v. 18, n. 12, p. 2594, doi. 10.3390/ijms18122594
- By:
- Publication type:
- Article
Citrin deficiency: A rare but important metabolic disorder to consider in infants with faltering growth and hyperbilirubinaemia.
- Published in:
- 2017
- By:
- Publication type:
- case study
Spectrum of disproportionate short stature at a tertiary-care center in Northern India.
- Published in:
- Indian Pediatrics, 2017, v. 54, n. 11, p. 971, doi. 10.1007/s13312-017-1195-y
- By:
- Publication type:
- Article
Diabetes Mellitus Secondary to Acute Pancreatitis in a Child with Wolf-Hirschhorn Syndrome.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Clinical factors in prosthodontic treatment of children with genetic defects.
- Published in:
- Advances in Clinical & Experimental Medicine, 2017, v. 26, n. 6, p. 1005, doi. 10.17219/acem/63094
- By:
- Publication type:
- Article
Successful difficult airway management of a child with Coffin-siris syndrome.
- Published in:
- Clinical Case Reports, 2017, v. 5, n. 8, p. 1312, doi. 10.1002/ccr3.1045
- By:
- Publication type:
- Article
Papillon Lefevre syndrome.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Health-related quality of life among children with hereditary angioedema.
- Published in:
- Pediatric Allergy & Immunology, 2017, v. 28, n. 4, p. 370, doi. 10.1111/pai.12712
- By:
- Publication type:
- Article
2p24.1p23.2 deletion and delayed recovery after a general anesthesia for gastrointestinal endoscopic procedure.
- Published in:
- Pediatric Anesthesia, 2017, v. 27, n. 6, p. 665, doi. 10.1111/pan.13095
- By:
- Publication type:
- Article
Hemophilia Care in the Pediatric Age.
- Published in:
- Journal of Clinical Medicine, 2017, v. 6, n. 5, p. 54, doi. 10.3390/jcm6050054
- By:
- Publication type:
- Article
Stimulus-dependent NETosis by neutrophils from a Papillon-Lefèvre Syndrome patient.
- Published in:
- Journal of the European Academy of Dermatology & Venereology, 2017, v. 31, n. 5, p. e239, doi. 10.1111/jdv.14004
- By:
- Publication type:
- Article
A stepped wedge design for testing an effect of intranasal insulin on cognitive development of children with Phelan-McDermid syndrome: A comparison of different designs.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Developmental charts for children with osteogenesis imperfecta, type I (body height, body weight and BMI).
- Published in:
- 2017
- By:
- Publication type:
- journal article
The ethical framework for performing research with rare inherited neurometabolic disease patients.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Rapid Molecular Genetic Diagnosis with Next-Generation Sequencing in 46,XY Disorders of Sex Development Cases: Efficiency and Cost Assessment.
- Published in:
- Hormone Research in Paediatrics, 2017, v. 87, n. 2, p. 81, doi. 10.1159/000452995
- By:
- Publication type:
- Article
Clinical Exome Sequencing Reveals MKRN3 Pathogenic Variants in Familial and Nonfamilial Idiopathic Central Precocious Puberty.
- Published in:
- Hormone Research in Paediatrics, 2017, v. 87, n. 2, p. 88, doi. 10.1159/000453262
- By:
- Publication type:
- Article
Rare renal ciliopathies in non-consanguineous families that were identified by targeted resequencing.
- Published in:
- Clinical & Experimental Nephrology, 2017, v. 21, n. 1, p. 136, doi. 10.1007/s10157-016-1256-x
- By:
- Publication type:
- Article
Osteopathic Manipulative Treatment Limits Chronic Constipation in a Child with Pitt-Hopkins Syndrome.
- Published in:
- Case Reports in Pediatrics, 2017, p. 1, doi. 10.1155/2017/5437830
- By:
- Publication type:
- Article
A retinopathy in young patient with co-inheritance of heterozygous alpha + -thalassemia and sickle trait: a case report.
- Published in:
- 2017
- By:
- Publication type:
- journal article