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Inflammation Research, ISSN 1023-3830, 11/2019, Volume 68, Issue 11, pp. 901 - 904
Journal Article
by Wain, Louise and Verwoert, Germaine and O'Reilly, Paul and Shi, Gang and Johnson, Toby and Bochud, Murielle and Rice, Kenneth and Henneman, Peter and Smith, Albert Vernon and Ehret, Georg and Amin, Najaf and Larson, Martin and Mooser, Vincent and Hadley, David and Dörr, Marcus and Bis, Joshua and Aspelund, Thor and Esko, Tõnu and Janssens, Cécile and Zhao, Jing Hua and Heath, Simon and Laan, Maris and Fu, Jingyuan and Pistis, Giorgio and Luan, J and Lucas, Gavin and Pirastu, Nicola and Pichler, Irene and Jackson, Anne and Webster, Rebecca J and Zhang, F.F and Peden, John and Schmidt, Reinhold and Tanaka, Toshiko and Campbell, Harry and Igl, Wilmar and Milaneschi, Yuri and Hottenga, Jouke Jan and Vitart, Veronique and Chasman, Daniel and Trompet, Stella and Bragg-Gresham, Jennifer L and Alizadeh, Behrooz and Chambers, John and Guo, Xiuqing and Lehtimäki, Terho and Kuhnel, Brigitte and Lopez, L.M and Polasek, Ozren and Boban, Mladen and Nelson, Christopher P and Morrison, Alanna and Pihur, Vasyl and Ganesh, Santhi and Hofman, Albert and Kundu, Suman and Mattace Raso, Francesco and Rivadeneira Ramirez, Fernando and Sijbrands, Eric and Uitterlinden, Ané and Hwang, S.J and Vasan, Ramachanan Srini and Wang, Ying and Bergmann, Sven and Vollenweider, Peter and Waeber, Gérard and Laitinen, Jaana and Pouta, Anneli and Zitting, Paavo and McArdle, Wendy and Kroemer, Heyo and Völker, Uwe and Völzke, Henry and Glazer, Nicole and Taylor, Kent and Harris, Tamara and Alavere, Helene and Haller, Toomas and Keis, Aime and Tammesoo, M.L and Aulchenko, Yurii and Khaw, Kay-Tee and Galan, Pilar and Hercberg, Serge and Lathrop, Mark and Eyheramendy, Susana and Org, Elin and Sõber, Siim and Lu, Xiaowen and Nolte, Ilja and Penninx, Brenda and Corre, Tanguy and Masciullo, Corrado and Sala, Cinzia and Groop, Leif and Voight, Benjamin and Melander, Olle and O'Donnell, Christopher and Salomaa, Veikko and Adamo, Pio and ... and CHARGE Consortium Heart Failure and Cardiogenics Consortium and AortaGen Consortium and LifeLines Cohort Study and EchoGen Consortium and KidneyGen Consortium and CKDGen Consortium and CardioGram and Cardiogenics consortium and KidneyGen consortium and CHARGE Consortium Heart Failure Working Group and EchoGen consortium and CKDGen consortium and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för immunologi, genetik och patologi and Uppsala universitet
Nature Genetics, ISSN 1061-4036, 10/2011, Volume 43, Issue 10, pp. 1005 - 1012
Journal Article
Human Mutation, ISSN 1059-7794, 12/2019, Volume 40, Issue 12, pp. 2286 - 2295
Nonsyndromic hearing loss (NSHL), a common sensory disorder, is characterized by high clinical and genetic heterogeneity (i.e., approximately 115 genes and 170... 
fimbrin | protein modeling | autosomal dominant nonsyndromic hearing loss | new gene | PLS1 | Fimbrin | Phenotypes | Hearing impairment | Actin | Genetic screening | Hearing loss
Journal Article
Nature Communications, ISSN 2041-1723, 12/2017, Volume 8, Issue 1, pp. 2176 - 15
Microbial nucleic acid recognition serves as the major stimulus to an antiviral response, implying a requirement to limit the misrepresentation of self nucleic... 
AICARDI-GOUTIERES-SYNDROME | SYSTEMIC-LUPUS-ERYTHEMATOSUS | ACTIVE ENZYME | MAMMALIAN DNA | MULTIDISCIPLINARY SCIENCES | ALPHA | INFLAMMATORY DISEASE | DEOXYRIBONUCLEASE-II | MUTATIONS | EXONUCLEASE TREX1 | NUCLEIC-ACIDS | Endodeoxyribonucleases - immunology | Phosphorylation | Deoxyribonucleases - deficiency | Humans | RNA, Messenger - analysis | Male | Gene Expression Profiling | Erythroblasts - immunology | Signal Transduction - immunology | Deoxyribonucleases - immunology | STAT1 Transcription Factor - metabolism | Female | Endodeoxyribonucleases - deficiency | Child | STAT3 Transcription Factor - metabolism | Interferon-alpha - metabolism | Antiviral Agents - pharmacology | Hereditary Autoinflammatory Diseases - blood | Hereditary Autoinflammatory Diseases - enzymology | Hereditary Autoinflammatory Diseases - immunology | Interferon-alpha - immunology | Up-Regulation - drug effects | Deoxyribonucleases - genetics | Hematopoiesis - immunology | Endodeoxyribonucleases - genetics | Sequence Analysis, RNA | Interferon-alpha - blood | Adolescent | Mutation | Hereditary Autoinflammatory Diseases - genetics | Glomerulonephritis | Neonates | Deformation | Liver | Antibodies | α-Interferon | Microorganisms | Lymphocytes | Hematopoiesis | Peripheral blood | Anti-DNA antibodies | Stat1 protein | Enzyme-linked immunosorbent assay | Deoxyribonucleic acid--DNA | Deoxyribonuclease | Hematology | Anemia | Stat3 protein | Nucleic acids | Ribonucleic acid--RNA | Hemopoiesis | Signaling | Monocytes | Erythroblasts | Fibrosis | Interferon | Endonuclease | Life Sciences | Immunology
Journal Article
Archives of disease in childhood, ISSN 0003-9888, 08/2019, p. archdischild-2019-317514
Journal Article
Congenital Anomalies, ISSN 0914-3505, 11/2019, Volume 59, Issue 6, pp. 197 - 198
Here we report a case of posthumous genetic testing on an aborted fetus. Voluntary termination of pregnancy was chosen after prenatal ultrasound examination... 
Prenatal diagnosis | Next-generation sequencing | Polydactyly | Gene sequencing
Journal Article
JOURNAL OF HUMAN GENETICS, ISSN 1434-5161, 11/2019, Volume 64, Issue 11, pp. 1075 - 1081
Thiamine metabolism dysfunction syndrome-4 (THMD4) includes episodic encephalopathy, often associated with a febrile illness, causing transient neurologic... 
CELLS | KNOCKOUT | MITOCHONDRIAL | DEFICIENCY | CARRIER | GENETICS & HEREDITY
Journal Article
Journal of Paediatrics and Child Health, ISSN 1034-4810, 04/2018, Volume 54, Issue 4, pp. 446 - 448
Journal Article
Journal of Bone and Mineral Research, ISSN 0884-0431, 10/2015, Volume 30, Issue 10, pp. 1814 - 1821
Journal Article
Journal of Pediatrics, The, ISSN 0022-3476, 2015, Volume 166, Issue 2, pp. 490 - 490.e1
Journal Article
Epileptic Disorders, ISSN 1294-9361, 10/2019, Volume 21, Issue 5, pp. 466 - 470
ABSTRACT Asparagine synthetase deficiency is a rare autosomal recessive neurometabolic disorder caused by mutations in the asparagine synthetase gene. It is... 
electroclinical phenotype | molecular analysis | asparagine synthetase deficiency | EEG
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2017, Volume 173, Issue 7, pp. 1970 - 1974
The phenotypic manifestations of microdeletions in the 19q13.32 region are still poorly known. In this paper we report a patient who presented with hypotonia,... 
19q13.32 | developmental delay | copy number variation | SNPs array | microdeletion | GENETICS & HEREDITY | Literature reviews | Penis
Journal Article
Archives of Disease in Childhood - Fetal and Neonatal Edition, ISSN 1359-2998, 11/2014, Volume 99, Issue 6, pp. F514 - F514
Journal Article
Journal of Paediatrics and Child Health, ISSN 1034-4810, 04/2018, Volume 54, Issue 4, pp. 446 - 448
Journal Article