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JOURNAL OF MEDICAL GENETICS, ISSN 0022-2593, 05/2015, Volume 52, Issue 5, pp. 312 - 316
Background Resistance to thyroid hormone is characterised by a lack of response of peripheral tissues to the active form of thyroid hormone (triiodothyronine,... 
ALPHA | GENETICS & HEREDITY | BETA | Laboratories | Genes | Genomics | Nervous system | Thyroid gland | Genomes | Metabolism | Hypothyroidism | Patients | Children & youth | Studies | Genotype & phenotype | Mutation | Age
Journal Article
Journal of Clinical Immunology, ISSN 0271-9142, 02/2017, Volume 37, Issue 2, pp. 133 - 142
Journal Article
Journal of Clinical Immunology, ISSN 0271-9142, 5/2018, Volume 38, Issue 4, pp. 538 - 538
The original version of the article, "Circulating T Cells of Patients with Nijmegen Breakage Syndrome Show Signs of Senescence” incorrectly listed the... 
Medical Microbiology | Infectious Diseases | Internal Medicine | Biomedicine | Immunology | T cells | Molecular biology | Medical genetics | Senescence | Lymphocytes T | Nijmegen breakage syndrome
Journal Article
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
Stem cell research, 12/2018, Volume 34, p. 101372
Human fibroblasts cells from a female diagnosed with Nijmegen Breakage Syndrome (NBS) carrying the homozygous NBN c.657_661del5 mutation were used to generate... 
Journal Article
Nature Reviews Endocrinology, ISSN 1759-5029, 02/2017, Volume 13, Issue 2, pp. 105 - 124
Journal Article
Developmental period medicine, ISSN 1428-345X, 10/2015, Volume 19, Issue 4, pp. 536 - 541
Orphanet is an international project aiming to help in improvement the diagnostic process, care and treatment of patients with rare diseases, and to provide... 
Rare Diseases - prevention & control | Europe | Humans | Information Dissemination - methods | Rare Diseases - diagnosis | Cooperative Behavior | National Health Programs | Nervous System Diseases - diagnosis | Nervous System Diseases - therapy | Rare Diseases - therapy | Diffusion of Innovation | Poland | Databases, Factual
Journal Article
Science, ISSN 0036-8075, 2/2008, Volume 319, Issue 5864, pp. 816 - 819
Journal Article
PLoS ONE, ISSN 1932-6203, 12/2016, Volume 11, Issue 12, p. e0167984
Journal Article
Scientific reports, ISSN 2045-2322, 12/2019, Volume 9, Issue 1, pp. 651 - 13
Ataxia Telangiectasia (A-T) is neurodegenerative syndrome caused by inherited mutations inactivating the ATM kinase, a master regulator of the DNA damage... 
CELLS | GENE | MEMORY | TOPOISOMERASES | ROLES | MULTIDISCIPLINARY SCIENCES | BREAKS | NEUROGENESIS | ATM | NETWORKS | EXPRESSION
Journal Article
Pediatric endocrinology, diabetes, and metabolism, ISSN 2081-237X, 2015, Volume 20, Issue 3, p. 101
Silver-Russell syndrome (SRS) is a rare, clinically and genetically heterogeneous entity, caused by (epi)genetic alternations. It is characterized by prenatal... 
Genomic Imprinting | Genetic Predisposition to Disease | Epigenomics | Humans | Child, Preschool | Infant | Male | Chromosomes, Human, Pair 7 | Silver-Russell Syndrome - genetics | Silver-Russell Syndrome - physiopathology | Adolescent | Female | Chromosomes, Human, Pair 11 | Genetic Background | Child
Journal Article
Stem Cell Research, ISSN 1873-5061, 01/2019, Volume 34, p. 101372
Human fibroblasts cells from a female diagnosed with Nijmegen Breakage Syndrome (NBS) carrying the homozygous c.657_661del5 mutation were used to generate... 
BIOTECHNOLOGY & APPLIED MICROBIOLOGY | CELL & TISSUE ENGINEERING | CELL BIOLOGY | Genetic aspects | Research | Diagnosis | Gene mutations | Nijmegen breakage syndrome | Stem cells
Journal Article
Journal Article