Related Experiment Videos
Neurofibromatosis type 2: Multiple intra-dermal tumors in a toddler
Cecilie F Rustad1, Hilde M Dahl2, Naomi L Bowers3
1Department of Medical Genetics, Oslo University Hospital Rikshospitalet, Oslo, Norway.
American Journal of Medical Genetics. Part A
|April 4, 2017
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
Implementing a Risk-Stratified National Breast Screening Programme in the United Kingdom: a model-based cost-effectiveness analysis.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology·2026
Tyrosine kinase inhibitors in Kosaki/Penttinen syndromes: new reports, follow-up of treated individuals and literature review.
European journal of human genetics : EJHG·2026
Health-Related Quality of Life, Everyday Executive Functioning, and Eating Behavior in Adults With Bardet-Biedl Syndrome.
American journal of medical genetics. Part A·2026
De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.
Nature communications·2026
Psychological and emotional impacts of communicating breast cancer risk using multifactorial assessment with polygenic risk score: Findings from PERSPECTIVE I&I.
Genetics in medicine : official journal of the American College of Medical Genetics·2025
A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement.
American journal of medical genetics. Part A·2026
Yunis Varon Syndrome: Characteristic Limb Abnormalities and Refining of the Phenotype.
American journal of medical genetics. Part A·2026
Third Patient With Biallelic Variants in SMAD6 With an Overlapping Phenotype: Developmental Delays, Dysmorphic Features, and Cardiovascular Abnormalities.
American journal of medical genetics. Part A·2026
COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10).
American journal of medical genetics. Part A·2026
Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects.
American journal of medical genetics. Part A·2026
A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development.
American journal of medical genetics. Part A·2026
Balancing safe resection and spinal stability in osteoblastoma and osteoid osteoma: a retrospective study.
European journal of orthopaedic surgery & traumatology : orthopedie traumatologie·2026