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Journal Article
Internistische Praxis, ISSN 0020-9570, 12/2013, Volume 53, Issue 4, p. 762
Journal Article
Clinical Genetics, ISSN 0009-9163, 06/2019, Volume 95, Issue 6, pp. 734 - 735
A hemizygous variant in the HNRNPH2 gene causes MRXSB in a male individual. 
GENETICS & HEREDITY | Mental illness
Journal Article
Nature Medicine, ISSN 1078-8956, 04/2015, Volume 21, Issue 4, pp. 363 - 376
Journal Article
BMC Pediatrics, ISSN 1471-2431, 12/2018, Volume 18, Issue 1, pp. 1 - 5
Abstract Background Triple A syndrome (or Allgrove syndrome) is a rare autosomal recessive disorder characterized by alacrima, achalasia, adrenal insufficiency... 
Allgrove syndrome | Achalasia | Alacrimia | Neuropathy | Adrenal failure | Autonomic
Journal Article
Pediatrics, ISSN 0031-4005, 04/2018, Volume 141, Issue Suppl 5, pp. S501 - S505
Blue diaper syndrome (BDS) (Online Mendelian Inheritance in Man number 211000) is an extremely rare disorder that was first described in 1964. The... 
ENDOCRINOPATHIES | PEDIATRICS | OBESITY | MALABSORPTIVE DIARRHEA | Hypercalcemia - genetics | Proprotein Convertase 1 - genetics | Chromatography, Ion Exchange | Eye Abnormalities - diagnosis | Frameshift Mutation | Eye Abnormalities - urine | Humans | Kidney Diseases - diagnosis | Tryptophan - genetics | Urine - chemistry | Male | Eye Abnormalities - genetics | Kidney Diseases - urine | Kidney Diseases - genetics | Whole Exome Sequencing | Amino Acid Metabolism, Inborn Errors - diagnosis | Tandem Mass Spectrometry | Amino Acid Metabolism, Inborn Errors - genetics | Hypercalcemia - diagnosis | Amino Acid Metabolism, Inborn Errors - urine | Tryptophan - urine | Hypercalcemia - urine | Infant, Newborn | Hydrogen-Ion Concentration | Metabolic diseases | Usage | Diagnosis | Research | Gene mutations | Chromatography | Neonates | Discoloration | Frameshift mutation | Infants | Medical diagnosis | Diapers | Gene sequencing | Prohormone convertase | Intestine | Metabolic acidosis | Extreme values | Urine | Diarrhea | Tryptophan | Mass spectroscopy | Liquid chromatography | Subtilisin | Heredity | Derivatives | Hypoglycemia | Weight | Babies | Hypercalcemia | Kexin | Ionization | Calcinosis | Prohormone convertase 1 | Visibility | Kidney diseases | Mutation | Indigo | Acidosis | Mass spectrometry | Index Medicus | Abridged Index Medicus
Journal Article
Internistische Praxis, ISSN 0020-9570, 10/2015, Volume 55, Issue 4, p. 710
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2017, Volume 100, Issue 2, pp. 257 - 266
Journal Article
Padiatrische Praxis, ISSN 0030-9346, 06/2015, Volume 84, Issue 2, p. 226
Journal Article
PLoS Pathogens, ISSN 1553-7366, 2017, Volume 13, Issue 6, pp. e1006425 - e1006425
T-cell proliferation and generation of protective memory during chronic infections depend on Interleukin-7 (IL-7) availability and receptivity. Regulation of... 
MYCOBACTERIUM-TUBERCULOSIS | CD127 EXPRESSION | ACTIVE PULMONARY TUBERCULOSIS | MICROBIOLOGY | ANTIRETROVIRAL THERAPY | CHRONIC VIRAL-INFECTION | INTERLEUKIN-7 RECEPTOR | HIV-INFECTED PATIENTS | VIROLOGY | MULTIPLE-SCLEROSIS | IMMUNE ACTIVATION | INFLAMMATORY CYTOKINES | PARASITOLOGY | Phosphorylation | Humans | Middle Aged | STAT5 Transcription Factor - immunology | Male | Tuberculosis - microbiology | Suppressor of Cytokine Signaling 3 Protein - genetics | Case-Control Studies | CD4-Positive T-Lymphocytes - immunology | Tuberculosis - immunology | Young Adult | Interleukin-7 - genetics | STAT5 Transcription Factor - genetics | Receptors, Interleukin-7 - genetics | Interleukin-7 - immunology | Mycobacterium tuberculosis - physiology | Receptors, Interleukin-7 - blood | Adult | Female | Aged | Interleukin-7 - blood | Suppressor of Cytokine Signaling 3 Protein - immunology | Receptors, Interleukin-7 - immunology | Mycobacterium tuberculosis - genetics | Control | Tuberculosis | Immunodeficiency | Development and progression | HIV patients | Research | T cells | Interleukin-7 | Health aspects | Risk factors | Cell proliferation | Post-transcription | Therapy | Transcription | PD-1 protein | Interleukin | Memory | Lymphocytes T | Recovery | Immunity | Blood plasma | Interleukin 7 | Acquired immune deficiency syndrome--AIDS | Lymphocytes | Human immunodeficiency virus--HIV | Markers | T cell receptors | Stat5 protein | Patients | CD4 antigen | Signaling | Exhaustion | Human performance | Aberration | In vitro methods and tests | Index Medicus | Acquired immune deficiency syndrome | AIDS | HIV | Human immunodeficiency virus
Journal Article
Microbes and infection, 08/2019
Journal Article
Journal Article