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ORPHANET JOURNAL OF RARE DISEASES, ISSN 1750-1172, 02/2012, Volume 7, Issue 1, pp. 13 - 13
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by microcephaly at birth, combined... 
MEDICINE, RESEARCH & EXPERIMENTAL | DNA-DAMAGE RESPONSE | Nijmegen breakage syndrome | Immunodeficiency | CHROMOSOMAL INSTABILITY DISORDER | SYNDROME GENE NBS1 | DOUBLE-STRAND BREAKS | Predisposition to malignancy | X-RAY HYPERSENSITIVITY | Chromosomal instability | PRIMARY-IMMUNODEFICIENCY | Microcephaly | Hypergonadotropic hypogonadism | B-CELL LYMPHOMA | GENETICS & HEREDITY | NON-HODGKIN-LYMPHOMA | CLASS-SWITCH RECOMBINATION | ATAXIA-TELANGIECTASIA | Hypogonadism - pathology | Nijmegen Breakage Syndrome - pathology | Microcephaly - genetics | Nijmegen Breakage Syndrome - physiopathology | Humans | Child, Preschool | Genes, Recessive | Nijmegen Breakage Syndrome - complications | Nijmegen Breakage Syndrome - genetics | Hypogonadism - genetics | Young Adult | Chromosomal Instability - genetics | Neoplasms - genetics | Immunologic Deficiency Syndromes - physiopathology | Microcephaly - pathology | Adolescent | Cell Cycle Proteins - genetics | Immunologic Deficiency Syndromes - genetics | Adult | Female | Neoplasms - pathology | Nuclear Proteins - genetics | Gene mutations | Genetic aspects | Transplantation | Diagnosis | Research | Health aspects | Risk factors | Hematopoietic stem cells | Respiratory distress syndrome | Colleges & universities | Ataxia | Lymphomas | Mutation | Chromosomes | Deoxyribonucleic acid--DNA | Children & youth
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 6/2008, Volume 105, Issue 23, pp. 8073 - 8078
Journal Article
2012, ISBN 364216482X, Volume 5, 3
Reference
PLoS ONE, ISSN 1932-6203, 11/2018, Volume 13, Issue 11, p. e0207315
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 12/2016, Volume 11, Issue 12, p. e0167984
Journal Article
Nature Medicine, ISSN 1078-8956, 05/2005, Volume 11, Issue 5, pp. 538 - 544
Journal Article
PLoS Genetics, ISSN 1553-7390, 03/2012, Volume 8, Issue 3, p. e1002557
Journal Article
13.