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American journal of human genetics, ISSN 0002-9297, 06/2013, Volume 92, Issue 6, pp. 990 - 995
Journal Article
BMC medical genetics, ISSN 1471-2350, 09/2019, Volume 20, Issue 1, pp. 157 - 157
Therapeutic drug monitoring | And irinotecan | X-linked agammaglobulinemia | Whole exome sequencing | Hypocalcemia | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Capecitabine - administration & dosage | Irinotecan - administration & dosage | Agammaglobulinemia - genetics | Colorectal Neoplasms - genetics | Humans | B-Lymphocytes | Male | Oxaliplatin - therapeutic use | Irinotecan - therapeutic use | Young Adult | Complement C6 - genetics | Hypocalcemia - chemically induced | ATP-Binding Cassette Transporters - genetics | Colorectal Neoplasms - drug therapy | PAX3 Transcription Factor - genetics | Adult | Genetic Diseases, X-Linked - diagnostic imaging | Genetic Diseases, X-Linked - genetics | Hypocalcemia - complications | Genetic Predisposition to Disease - genetics | Immunoglobulins | Genetic Association Studies | Drug Therapy | Capecitabine - therapeutic use | Whole Exome Sequencing | Asian Continental Ancestry Group | Calcium Channels, L-Type - genetics | Agammaglobulinemia - diagnostic imaging | Agammaglobulinaemia Tyrosine Kinase - genetics | Mutation | Drug Monitoring | Genes | Liver | Colorectal carcinoma | Colorectal cancer | Calcium metabolism | Metastasis | Cancer therapies | Metastases | Oxaliplatin | Pain | Metabolites | Lymphocytes | Bronchitis | Pax3 protein | Protein-tyrosine kinase | Age | Tyrosine | Medical imaging | Agammaglobulinemia | Immunodeficiency | CD36 antigen | Metabolism | Patients | Bruton's tyrosine kinase | Abdomen | Irinotecan | Chemotherapy | Lymphocytes B | Index Medicus
Journal Article
Journal of human genetics, ISSN 1434-5161, 09/2017, Volume 62, Issue 9, pp. 809 - 814
Journal Article
BMC medical genetics, ISSN 1471-2350, 10/2017, Volume 18, Issue 1, pp. 121 - 121
Sensorineural | Case report | HDR syndrome | Hypoparathyroidism | DFNX2 | GATA3 gene | Renal anomalies | Hearing loss | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | GATA3 Transcription Factor - genetics | Frameshift Mutation | Humans | Hypoparathyroidism - physiopathology | Infant | Male | Tomography, X-Ray Computed | Hypoparathyroidism - genetics | Hypoparathyroidism - surgery | Hypoparathyroidism - diagnosis | Hearing Loss, Sensorineural - diagnosis | Nephrosis - diagnosis | Genetic Diseases, X-Linked - genetics | Genetic Diseases, X-Linked - physiopathology | Diagnosis, Differential | Gene Expression | Chromosomes, Human, Pair 10 - chemistry | Hearing Loss, Sensorineural - genetics | Nephrosis - genetics | Hearing Loss, Conductive - physiopathology | Genetic Diseases, X-Linked - diagnosis | Haploinsufficiency | Hearing Loss, Conductive - diagnosis | Cochlear Implantation | Nephrosis - physiopathology | Nephrosis - surgery | Hearing Loss, Conductive - genetics | Heterozygote | Hearing Loss, Sensorineural - surgery | Hearing Loss, Sensorineural - physiopathology | Case studies | Genetic disorders | Research | Diagnosis | Gene mutations | Transcription factors | Nuclear magnetic resonance--NMR | Genes | Gene deletion | Genetic screening | Mimicry | Computed tomography | Genetic analysis | Chromosome 10 | Tomography | Bones | Differential diagnosis | Hypocalcemia | Seizures | Cochlear implants | Deafness | Congenital diseases | Temporal bone | Dietary supplements | Breast cancer | Hearing impairment | GATA-3 protein | Cochlea | Ears & hearing | Mutation | Kidney diseases | Index Medicus
Journal Article
Nature reviews. Endocrinology, ISSN 1759-5029, 12/2018, Volume 15, Issue 1, pp. 33 - 51
Journal Article