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Current opinion in pediatrics, ISSN 1040-8703, 02/2019, Volume 31, Issue 1, pp. 41 - 47
Journal Article
Current opinion in pediatrics, 12/2018
A significant proportion of pediatric cancer occurs in children with hereditary cancer predisposition syndromes. Their survival may be significantly improved... 
Journal Article
Journal Article
Pediatric Blood and Cancer, ISSN 1545-5009, 04/2013, Volume 60, Issue 4, pp. 593 - 598
Journal Article
Gastrointestinal Endoscopy, ISSN 0016-5107, 2017, Volume 85, Issue 5, pp. AB289 - AB290
Journal Article
Genetics in Medicine, ISSN 1098-3600, 04/2019, Volume 21, Issue 4, pp. 867 - 876
Neurofibromatosis type 1 (NF1) is characterized by a highly variable clinical presentation, but almost all NF1-affected adults present with cutaneous and/or... 
genotype–phenotype correlation | NF1 | p.Met992del | learning difficulties | neurofibroma | GENETICS & HEREDITY | Genotype & phenotype | Brain cancer | Index Medicus
Journal Article
Cancer Medicine, ISSN 2045-7634, 11/2015, Volume 4, Issue 11, pp. 1679 - 1686
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 03/2019, Volume 21, Issue 3, pp. 764 - 765
A correction has been published to this Article. The PDF and HTML have been updated accordingly. 
Journal Article
Cancer Research, ISSN 0008-5472, 08/2015, Volume 75, Issue 15 Supplement, pp. 5576 - 5576
Journal Article
Cancer Research, ISSN 0008-5472, 08/2015, Volume 75, Issue 15 Supplement, pp. 853 - 853
Journal Article
Therapeutic Advances in Endocrinology and Metabolism, ISSN 2042-0188, 09/2018, Volume 9
Individuals with PTEN Hamartoma Tumor Syndrome (PHTS) are at greatly increased risk for developing well-differentiated thyroid cancer. Specific circumstances... 
Journal Article
Cancer Epidemiology, ISSN 1877-7821, 2016, Volume 44, pp. 161 - 166
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 10/2017, Volume 101, Issue 4, pp. 503 - 515
Bromodomain PHD finger transcription factor (BPTF) is the largest subunit of nucleosome remodeling factor (NURF), a member of the ISWI chromatin-remodeling... 
17q24.2 deletion | PSMD12 | zebrafish | head size | intellectual disability | INTELLECTUAL DISABILITY | PROTEIN | GENE | IN-VIVO | GENETICS & HEREDITY | PHD FINGER | MUTATIONS | TRANSCRIPTION FACTOR | ARRAY CGH | COPY-NUMBER VARIANT | COMPLEX NURF | Abnormalities, Multiple - pathology | Neurons - pathology | Cell Proliferation | Microcephaly - genetics | Antigens, Nuclear - metabolism | Humans | Child, Preschool | Male | Gene Expression Regulation, Developmental | Larva - growth & development | Microcephaly - pathology | Craniofacial Abnormalities - pathology | Female | Larva - genetics | Neurons - metabolism | Child | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Haploinsufficiency - genetics | Nerve Tissue Proteins - antagonists & inhibitors | Language Development Disorders - genetics | Cells, Cultured | Language Development Disorders - pathology | Chromatin Assembly and Disassembly | Transcription Factors - antagonists & inhibitors | Transcription Factors - genetics | Nerve Tissue Proteins - genetics | Zebrafish - growth & development | Gene Editing | Zebrafish - genetics | Haploinsufficiency - physiology | Nerve Tissue Proteins - metabolism | Transcription Factors - metabolism | Phenotype | Animals | Antigens, Nuclear - genetics | Adolescent | CRISPR-Cas Systems | Cohort Studies | Cell proliferation | Usage | Transcription factors | Genetic aspects | Research | Nucleotide sequencing | Mental retardation | DNA sequencing | Index Medicus
Journal Article
Therapeutic Advances in Endocrinology and Metabolism, ISSN 2042-0188, 9/2018, Volume 9, Issue 9, pp. 299 - 301
Individuals with PTEN Hamartoma Tumor Syndrome (PHTS) are at greatly increased risk for developing well-differentiated thyroid cancer. Specific circumstances... 
thyroid cancer | PTEN mutation | total thyroidectomy | Prophylactic | INDIVIDUALS | GERMLINE PTEN | COWDEN | ENDOCRINOLOGY & METABOLISM | CANCER | HAMARTOMA TUMOR SYNDROME | CHILDREN
Journal Article