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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 20, 2025. (Total: 235500Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Rare Diseases and BMPR2[original query]
Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension.
Circulation 2017 10 136 (21): 2022-2033.
Hadinnapola Charaka, Bleda Marta, Haimel Matthias, Screaton Nicholas, Swift Andrew, Dorfmüller Peter, Preston Stephen D, Southwood Mark, Hernandez-Sanchez Jules, Martin Jennifer, Treacy Carmen, Yates Katherine, Bogaard Harm, Church Colin, Coghlan Gerry, Condliffe Robin, Corris Paul A, Gibbs Simon, Girerd Barbara, Holden Simon, Humbert Marc, Kiely David G, Lawrie Allan, Machado Rajiv, MacKenzie Ross Robert, Moledina Shahin, Montani David, Newnham Michael, Peacock Andrew, Pepke-Zaba Joanna, Rayner-Matthews Paula, Shamardina Olga, Soubrier Florent, Southgate Laura, Suntharalingam Jay, Toshner Mark, Trembath Richard, Vonk Noordegraaf Anton, Wilkins Martin R, Wort Stephen J, Wharton John, , Gräf Stefan, Morrell Nicholas
Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH.
Genome medicine 2021 May 13 (1): 80.
Zhu Na, Swietlik Emilia M, Welch Carrie L, Pauciulo Michael W, Hagen Jacob J, Zhou Xueya, Guo Yicheng, Karten Johannes, Pandya Divya, Tilly Tobias, Lutz Katie A, Martin Jennifer M, Treacy Carmen M, Rosenzweig Erika B, Krishnan Usha, Coleman Anna W, Gonzaga-Jauregui Claudia, Lawrie Allan, Trembath Richard C, Wilkins Martin R, , , , , Morrell Nicholas W, Shen Yufeng, Gräf Stefan, Nichols William C, Chung Wendy
First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease.
American journal of respiratory and critical care medicine 2022 7 206 (12): 1522-1533.
Prapa Matina, Lago-Docampo Mauro, Swietlik Emilia M, Montani David, Eyries Mélanie, Humbert Marc, Welch Carrie L, Chung Wendy K, Berger Rolf M F, Bogaard Harm Jan, Danhaive Olivier, Escribano-Subías Pilar, Gall Henning, Girerd Barbara, Hernandez-Gonzalez Ignacio, Holden Simon, Hunt David, Jansen Samara M A, Kerstjens-Frederikse Wilhelmina, Kiely David G, Lapunzina Pablo, McDermott John, Moledina Shahin, Pepke-Zaba Joanna, Polwarth Gary J, Schotte Gwen, Tenorio-Castaño Jair, Thompson A A Roger, Wharton John, Wort Stephen J, Megy Karyn, Mapeta Rutendo, Treacy Carmen M, Martin Jennifer M, Li Wei, Swift Andrew J, Upton Paul D, Morrell Nicholas W, Gräf Stefan, Valverde Diana, , ,
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