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01/2016, 2nd ed. 2017, ISBN 9783319442020, 391
Clinical management and signs are the focus of this practical cardiogenetic reference for those who are involved in the care for cardiac patients with a... 
Clinical & internal medicine | Human genetics | Human Genetics | Medicine & Public Health | Cardiology
eBook
2016, 2nd ed. 2017., ISBN 9783319442020
This extensively revised second edition provides a thorough basic knowledge on the genetic aspects of cardiovascular disorders. Many cardiologists have not... 
Medicine | Cardiology | Human genetics
Web Resource
Book
Ophthalmology, ISSN 0161-6420, 11/2017, Volume 124, Issue 11, pp. 1711 - 1711
Journal Article
Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 1416 - 16
Pulmonary arterial hypertension (PAH) is a rare disorder with a poor prognosis. Deleterious variation within components of the transforming growth factor-beta... 
SOX17 | GENE | ANGIOGENESIS | CRYSTAL-STRUCTURE | MULTIDISCIPLINARY SCIENCES | BMP9 | ASSOCIATION | EXPRESSION | NONSENSE MUTATION | BETA-RECEPTOR | CAVEOLIN-1 | Prognosis | Humans | Male | Familial Primary Pulmonary Hypertension - diagnosis | SOXF Transcription Factors - metabolism | Aquaporin 1 - metabolism | Case-Control Studies | Familial Primary Pulmonary Hypertension - metabolism | Membrane Transport Proteins - genetics | Base Sequence | HEK293 Cells | Adult | Female | Growth Differentiation Factors - genetics | Membrane Transport Proteins - metabolism | Familial Primary Pulmonary Hypertension - pathology | Genetic Predisposition to Disease | Bone Morphogenetic Protein Receptors, Type II - genetics | Signal Transduction | Gene Expression Regulation | Adenosine Triphosphatases - metabolism | Models, Molecular | Familial Primary Pulmonary Hypertension - genetics | Bone Morphogenetic Protein Receptors, Type II - metabolism | Membrane Transport Proteins - chemistry | Whole Genome Sequencing | Aquaporin 1 - chemistry | Aquaporin 1 - genetics | Growth Differentiation Factors - metabolism | Transforming Growth Factor beta - genetics | Adenosine Triphosphatases - chemistry | Adenosine Triphosphatases - genetics | Mutation | SOXF Transcription Factors - genetics | Transforming Growth Factor beta - metabolism | SOXF Transcription Factors - chemistry | Growth Differentiation Factors - chemistry | Hypertension | Bone morphogenetic protein receptor type II | Secretion | Lung | Transforming growth factor | Genes | Genomes | Heritability | Aquaporin 1 | Gene sequencing | Index Medicus
Journal Article
Journal Article
Circulation, ISSN 0009-7322, 2011, Volume 123, Issue 23, pp. 2690 - U87
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2017, Volume 25, Issue 3, pp. 308 - 314
Journal Article
PLOS ONE, ISSN 1932-6203, 03/2019, Volume 14, Issue 3, pp. e0212952 - e0212952
Birt-Hogg-Dube syndrome is associated with an increased risk for renal cell carcinoma. Surveillance is recommended, but the optimal imaging method and... 
DIAGNOSIS | MUTATIONS | PARENCHYMAL SPARING SURGERY | CANCER | MULTIDISCIPLINARY SCIENCES | CELL CARCINOMA
Journal Article
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 2016, Volume 170A, Issue 7, pp. 1874 - 1880
Mutations in RIT1, involved in the RAS-MAPK pathway, have recently been identified as a cause for Noonan syndrome. We present two patients with Noonan syndrome... 
hydrops fetalis | RIT1 | RASopathy | Noonan syndrome | lymphedema | GENETICS & HEREDITY | MUTATIONS | FEATURES | ras Proteins - genetics | Phenotype | Hydrops Fetalis - genetics | Humans | Noonan Syndrome - physiopathology | Female | Lower Extremity - physiopathology | Male | Mutation, Missense | Hydrops Fetalis - physiopathology | Noonan Syndrome - genetics | Genetic aspects | Index Medicus
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2016, Volume 170, Issue 7, pp. 1874 - 1880
Journal Article
by Farmery, James H. R and Smith, Mike L and Huissoon, Aarnoud and Furnell, Abigail and Mead, Adam and Levine, Adam P and Manzur, Adnan and Thrasher, Adrian and Greenhalgh, Alan and Parker, Alasdair and Sanchis-Juan, Alba and Richter, Alex and Gardham, Alice and Lawrie, Allan and Sohal, Aman and Creaser-Myers, Amanda and Frary, Amy and Greinacher, Andreas and Themistocleous, Andreas and Peacock, Andrew J and Marshall, Andrew and Mumford, Andrew and Rice, Andrew and Webster, Andrew and Brady, Angie and Koziell, Ania and Manson, Ania and Chandra, Anita and Hensiek, Anke and Veld, Anna Huis In'T and Maw, Anna and Kelly, Anne M and Moore, Anthony and Vonk Noordegraaf, Anton and Attwood, Antony and Herwadkar, Archana and Ghofrani, Ardi and Houweling, Arjan C and Girerd, Barbara and Furie, Bruce and Treacy, Carmen M and Millar, Carolyn M and Sewell, Carrock and Roughley, Catherine and Titterton, Catherine and Williamson, Catherine and Hadinnapola, Charaka and Deshpande, Charu and Toh, Cheng-Hock and Bacchelli, Chiara and Patch, Chris and Geet, Chris Van and Babbs, Christian and Bryson, Christine and Penkett, Christopher J and Rhodes, Christopher J and Watt, Christopher and Bethune, Claire and Booth, Claire and Lentaigne, Claire and McJannet, Coleen and Church, Colin and French, Courtney and Samarghitean, Crina and Halmagyi, Csaba and Gale, Daniel and Greene, Daniel and Hart, Daniel and Allsup, David and Bennett, David and Edgar, David and Kiely, David G and Gosal, David and Perry, David J and Keeling, David and Montani, David and Shipley, Debbie and Whitehorn, Deborah and Fletcher, Debra and Krishnakumar, Deepa and Grozeva, Detelina and Kumararatne, Dinakantha and Thompson, Dorothy and Josifova, Dragana and Maher, Eamonn and Wong, Edwin K. S and Murphy, Elaine and Dewhurst, Eleanor and Louka, Eleni and Rosser, Elisabeth and Chalmers, Elizabeth and Colby, Elizabeth and Drewe, Elizabeth and McDermott, Elizabeth and Thomas, Ellen and Staples, Emily and Clement, Emma and Matthews, Emma and Wakeling, Emma and Oksenhendler, Eric and ... and NIHR BioResource-Rare Dis and NIHR BioResource - Rare Diseases
Scientific Reports, ISSN 2045-2322, 12/2018, Volume 8, Issue 1, pp. 1300 - 17
Telomere length is a risk factor in disease and the dynamics of telomere length are crucial to our understanding of cell replication and vitality. The... 
MULTIDISCIPLINARY SCIENCES | DISEASE | Telomeres | Ploidy | Computer applications | Data processing | Genomes | Chromosomes | Telomerase | Genotypes | Cancer | Index Medicus
Journal Article