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Rheumatology international, ISSN 0172-8172, 02/2020, Volume 40, Issue 2, pp. 303 - 311
Life Sciences & Biomedicine | Rheumatology | Science & Technology | Recurrence | Gastrointestinal Diseases - physiopathology | Humans | Middle Aged | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis - physiopathology | Epistaxis - physiopathology | Male | Peripheral Nervous System Diseases - physiopathology | Antibodies, Antineutrophil Cytoplasmic - immunology | Skin Diseases - physiopathology | Gastrointestinal Diseases - pathology | Granulomatosis with Polyangiitis - classification | Sinusitis - pathology | Sinusitis - physiopathology | Epistaxis - pathology | Churg-Strauss Syndrome - physiopathology | Kidney Failure, Chronic - physiopathology | Primary Prevention | Churg-Strauss Syndrome - classification | Kidney Diseases - pathology | Mortality | Skin Diseases - immunology | Hypertension - immunology | Hypertension - pathology | Kidney Diseases - immunology | Lung Diseases - immunology | Lung Diseases - physiopathology | Eye Diseases - physiopathology | Kidney Diseases - physiopathology | Prognosis | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis - pathology | Skin Diseases - pathology | Microscopic Polyangiitis - classification | Granulomatosis with Polyangiitis - immunology | Sinusitis - immunology | Female | Granulomatosis with Polyangiitis - physiopathology | Microscopic Polyangiitis - immunology | Peripheral Nervous System Diseases - pathology | Retrospective Studies | Eye Diseases - pathology | Peripheral Nervous System Diseases - immunology | Gastrointestinal Diseases - immunology | Granulomatosis with Polyangiitis - pathology | Epistaxis - immunology | Microscopic Polyangiitis - physiopathology | Severity of Illness Index | Peroxidase - immunology | Eye Diseases - immunology | Myeloblastin - immunology | Proportional Hazards Models | Churg-Strauss Syndrome - pathology | Hypertension - physiopathology | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis - classification | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis - immunology | Aged | Churg-Strauss Syndrome - immunology | Lung Diseases - pathology | Microscopic Polyangiitis - pathology | Clinical medicine | Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 10/2017, Volume 101, Issue 4, pp. 552 - 563
polymicrogyria | developmental defects | hypomorphic variants | congenital ataxia | ciliopathies | SUFU | Joubert syndrome | Sonic Hedgehog | molar tooth sign | GLI3 | Congenital ataxia | Hypomorphic variants | Developmental defects | Ciliopathies | Polymicrogyria | Molar tooth sign | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Abnormalities, Multiple - pathology | Skin - metabolism | Humans | Zinc Finger Protein Gli3 | Hedgehog Proteins - metabolism | Male | Bone Diseases, Developmental - genetics | Mutation, Missense | Cerebellum - abnormalities | Bone Diseases, Developmental - pathology | Gene Expression Regulation, Developmental | Kruppel-Like Transcription Factors - metabolism | Kidney Diseases, Cystic - genetics | Craniofacial Abnormalities - pathology | Female | Child | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Repressor Proteins - metabolism | Skin - pathology | Fibroblasts - metabolism | Repressor Proteins - chemistry | Signal Transduction | Cells, Cultured | Repressor Proteins - genetics | Eye Abnormalities - genetics | Fibroblasts - pathology | Genes, Recessive | Sequence Analysis, DNA | Cerebellum - pathology | Kidney Diseases, Cystic - pathology | Nerve Tissue Proteins - metabolism | Eye Abnormalities - pathology | Retina - abnormalities | Retina - pathology | Cohort Studies | Embryonic development | Usage | Gene mutations | Analysis | Nucleotide sequencing | Research | Diagnosis | Children | Health aspects | DNA sequencing | Index Medicus
Journal Article
Matrix biology, ISSN 0945-053X, 01/2017, Volume 57-58, Issue 1, pp. 124 - 139
Journal Article
by Mishra, Aniket and Vitart, Veronique and Bykhovskaya, Yelena and Höhn, René and Springelkamp, Henriët and Cuellar-Partida, Gabriel and Willoughby, Colin E and Yazar, Seyhan and Nag, Abhishek and Polašek, Ozren and Tham, Yih Chung and Kearns, Lisa S and Shi, Yuan and Taylor, Kent D and Wang, Jie Jin and Attia, John and Holliday, Elizabeth G and Baird, Paul N and Xie, Jing and Inouye, Michael and Sim, Xueling and Bonnemaijer, Pieter and Rotter, Jerome I and Zeller, Tanja and Mills, Richard A and Staffieri, Sana E and Jonas, Jost B and Schmidtmann, Irene and Boutin, Thibaud and Lucas, Sionne E. M and Wong, Tien Yin and Beutel, Manfred E and Wilson, James F and Budenz, Donald L and Christen, William G and Fingert, John and Gaasterland, Douglas and Gaasterland, Terry and Hauser, Michael A and Lichter, Paul R and Liu, Yutao and Loomis, Stephanie J and Realini, Anthony and Richards, Julia E and Schuman, Joel S and Singh, Kuldev and Vollrath, Douglas and Wollstein, Gadi and Donnelly, Peter and Barroso, Ines and Bramon, Elvira and Brown, Matthew A and Casas, Juan P and Corvin, Aiden and Deloukas, Panos and Duncanson, Auey and Jankowski, Janusz and Mathew, Christopher G and Palmer, Colin N. A and Sawcer, Stephen J and Wood, Nicholas W and Spencer, Chris C. A and Band, Gavin and Bellenguez, C. line and Hellenthal, Garrett and Giannoulatou, Eleni and Pirinen, Matti and Pearson, Richard and Strange, Amy and Su, Zhan and Vukcevic, Damjan and Langford, Cordelia and Hunt, Sarah E and Edkins, Sarah and Gwilliam, Rhian and Blackburn, Hannah and Bumpstead, Suzannah J and Hammond, Naomi and Jayakumar, Alagurevathi and McCann, Owen T and Liddle, Jennifer and Potter, Simon C and Ravinarajah, Radhi and Ricketts, Michelle and Waller, Matthew and Widaa, Sara and Whittaker, Pamela and Uitterlinden, Ané G and Vithana, Eranga N and Hewitt, Alex W and Khor, Chiea Chuen and Klaver, Caroline C. W and Aung, Tin and Pfeiffer, Norbert and MacKey, David A and Cheng, Ching-Yu and Rabinowitz, Yaron S and Wiggs, Janey L and Burdon, Kathryn P and MacGregor, Stuart and Blue Mountains Eye Study-GWAS Grp and NEIGHBORHOOD Consortium and Wellcome Trust Case Control Consor and Blue Mountains Eye Study—GWAS group and Wellcome Trust Case Control Consortium 2 (WTCCC2)
Nature communications, ISSN 2041-1723, 2018, Volume 9, Issue 1, pp. 1864 - 11
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Lumican - metabolism | Glaucoma, Open-Angle - genetics | Humans | Corneal Diseases - metabolism | Corneal Dystrophies, Hereditary - ethnology | Corneal Diseases - genetics | Ehlers-Danlos Syndrome - genetics | Corneal Dystrophies, Hereditary - pathology | Loeys-Dietz Syndrome - metabolism | Mendelian Randomization Analysis | Fibrillin-1 - metabolism | Cornea - pathology | Keratoconus - pathology | Corneal Diseases - pathology | Decorin - genetics | Gene Expression | Eye Diseases, Hereditary - pathology | Lumican - genetics | ADAMTS Proteins - metabolism | Proteoglycans - metabolism | Ehlers-Danlos Syndrome - ethnology | European Continental Ancestry Group | Myopia - pathology | Cornea - metabolism | Myopia - ethnology | Loeys-Dietz Syndrome - pathology | Corneal Diseases - ethnology | Marfan Syndrome - metabolism | Marfan Syndrome - pathology | Cornea - abnormalities | Quantitative Trait Loci | Proteoglycans - genetics | ADAMTS Proteins - genetics | Transforming Growth Factor beta2 - metabolism | Corneal Dystrophies, Hereditary - genetics | Glaucoma, Open-Angle - pathology | Keratoconus - metabolism | Loeys-Dietz Syndrome - ethnology | Glaucoma, Open-Angle - ethnology | Myopia - metabolism | Ehlers-Danlos Syndrome - pathology | Marfan Syndrome - ethnology | Keratoconus - genetics | Glaucoma, Open-Angle - metabolism | Fibrillin-1 - genetics | Eye Diseases, Hereditary - ethnology | Genome-Wide Association Study | Quantitative Trait, Heritable | Corneal Dystrophies, Hereditary - metabolism | Marfan Syndrome - genetics | Eye Diseases, Hereditary - genetics | Myopia - genetics | Asian Continental Ancestry Group | Keratoconus - ethnology | Ehlers-Danlos Syndrome - metabolism | Loeys-Dietz Syndrome - genetics | Polymorphism, Single Nucleotide | Transforming Growth Factor beta2 - genetics | Genome, Human | Decorin - metabolism | Eye Diseases, Hereditary - metabolism | Glaucoma | Cornea | Genes | Myopia | Association analysis | Genomes |