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PLoS ONE, ISSN 1932-6203, 03/2016, Volume 11, Issue 3, p. e0149072
Journal Article
Journal of Neuro-Oncology, ISSN 0167-594X, 3/2018, Volume 137, Issue 1, pp. 205 - 213
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 05/2016, Volume 61, Issue 5, pp. 463 - 466
Retinoblastoma (RB, MIM 180200) is the paradigm of hereditary cancer. Individuals harboring a constitutional mutation in one allele of the RB1 gene have a high... 
ELEMENTS | MUTATIONS | RETROTRANSPOSITION | SPECTRUM | SEQUENCE | GENETICS & HEREDITY | Computational Biology - methods | Alternative Splicing | Retinoblastoma - genetics | Exons | Introns | Humans | Infant | Male | Genetic Loci | Sequence Analysis, DNA | Long Interspersed Nucleotide Elements | Retinoblastoma Protein - genetics | Adult | Mutagenesis, Insertional | Retinoblastoma - diagnosis
Journal Article
British Journal of Haematology, ISSN 0007-1048, 09/2011, Volume 154, Issue 5, pp. 600 - 611
Journal Article
Journal Article
Journal Article
JOURNAL OF HUMAN GENETICS, ISSN 1434-5161, 02/2020, Volume 65, Issue 2, pp. 165 - 174
Somatic mutational mosaicism is a common feature of monogenic genetic disorders, particularly in diseases such as retinoblastoma, with high rates of de novo... 
ALLELE | RB1 MUTATIONS | LOW-PENETRANCE | GENE | GENETICS & HEREDITY | RISK | SPECTRUM | SURVIVORS | DELETION
Journal Article
Clinical and Translational Oncology, ISSN 1699-048X, 7/2018, Volume 20, Issue 7, pp. 805 - 807
Journal Article
Cancer metastasis reviews, ISSN 0167-7659, 03/2020, Volume 39, Issue 1, pp. 149 - 160
Survival for childhood cancers has improved significantly over the last decades. However, patient outcomes have plateaued over the last decade for... 
Journal Article
Journal of nuclear medicine : official publication, Society of Nuclear Medicine, 10/2018, Volume 59, Issue 10, p. 1524
To determine whether the current F-FDG PET response criterion for skeletal involvement in Hodgkin lymphoma (HL) is suitable, we performed a systematic... 
Journal Article
Pediatric Neurology, ISSN 0887-8994, 2004, Volume 30, Issue 5, pp. 361 - 364
We describe a 3 year-old male who presented with fever and cerebellar dysfunction after varicella. He developed transient hepatosplenomegaly, cytopenias, and... 
APOPTOSIS | PERFORIN | PEDIATRICS | BONE-MARROW-TRANSPLANTATION | CLINICAL NEUROLOGY | CHILDREN
Journal Article