Suchergebnisse - "Whitehorn, Deborah"

PubPharm (13)

1

Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension

enthalten in: American journal of respiratory and critical care medicine | 2020

von Hodgson, J. | Swietlik, E. | Salmon, R. | +58

2

Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 Glomerulopathy

enthalten in: Journal of the American Society of Nephrology : JASN | 2020

von Levine, A. | Chan, M. | Sadeghi-Alavijeh, O. | +22

CommentIn: Nat Rev Nephrol. 2020 Apr;16(4):188. - PMID 31969712

3

Identification of novel rare sequence variation underlying heritable pulmonary arterial hypertension

enthalten in: bioRxiv.org | 2020

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

4

GRID – Genomics of Rare Immune Disorders: a highly sensitive and specific diagnostic gene panel for patients with primary immunodeficiencies

enthalten in: bioRxiv.org | 2019

von Simeoni, I. | Shamardina, O. | Deevi, S. | +20

5

Germline selection shapes human mitochondrial DNA diversity

enthalten in: Science (New York, N.Y.) | 2019

von Wei, W. | Tuna, S. | Keogh, M. | +138

CommentIn: Nat Rev Genet. 2019 Aug;20(8):434-435. - PMID 31171864

6

Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia

enthalten in: Haematologica | 2019

von Bariana, T. | Labarque, V. | Heremans, J. | +19

7

Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans

enthalten in: The Journal of allergy and clinical immunology | 2018

von Tuijnenburg, P. | Lango Allen, H. | Burns, S. | +128

CommentIn: J Allergy Clin Immunol. 2018 Oct;142(4):1062-1065. - PMID 30165054

8

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

9

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension

enthalten in: Nature communications | 2018

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

10

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