Suchergebnisse - "Girerd, Barbara"

PubPharm (134)

41

Loss-of-Function ABCC8 Mutations in Pulmonary Arterial Hypertension

enthalten in: Circulation. Genomic and precision medicine | 2018

von Bohnen, M. | Ma, L. | Zhu, N. | +47

42

Pulmonary hypertension associated with neurofibromatosis type 1

enthalten in: European respiratory review : an official journal of the European Respiratory Society | 2018

von Jutant, E. | Girerd, B. | Jaïs, X. | +6

43

Publisher Correction : Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

enthalten in: Scientific reports | 2018

von Farmery, J. | Smith, M. | NIHR BioResource - Rare Diseases | +101

ErratumFor: Sci Rep. 2018 Jan 22;8(1):1300. - PMID 29358629

44

Natural History over 8 Years of Pulmonary Vascular Disease in a Patient Carrying Biallelic EIF2AK4 Mutations

enthalten in: American journal of respiratory and critical care medicine | 2018

von Montani, D. | Dorfmüller, P. | Girerd, B. | +5

45

Pulmonary vascular remodeling patterns and expression of general control nonderepressible 2 (GCN2) in pulmonary veno-occlusive disease

enthalten in: The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation | 2018

von Nossent, E. | Antigny, F. | Montani, D. | +16

46

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension

enthalten in: Nature communications | 2018

von Gräf, S. | Haimel, M. | Bleda, M. | +62

47

Telomerecat : A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

enthalten in: Scientific reports | 2018

von Farmery, J. | Smith, M. | NIHR BioResource - Rare Diseases | +101

ErratumIn: Sci Rep. 2018 Sep 3;8(1):13376. - PMID 30177810

48

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

enthalten in: Circulation | 2017

von Hadinnapola, C. | Bleda, M. | Haimel, M. | +141

CommentIn: Circulation. 2017 Nov 21;136(21):2034-2036. - PMID 29158214

49

Heritable pulmonary hypertension : from bench to bedside

enthalten in: European respiratory review : an official journal of the European Respiratory Society | 2017

von Girerd, B. | Weatherald, J. | Montani, D. | +1

50

Genetics of pulmonary hypertension in the clinic

enthalten in: Current opinion in pulmonary medicine | 2017

von Girerd, B. | Lau, E. | Montani, D. | +1