Suchergebnisse - "Tuna, Salih"

PubPharm (30)

1

Genome Sequencing and Comprehensive Rare Variant Analysis of 465 Families with Neurodevelopmental Disorders

enthalten in: bioRxiv.org | 2024

von Sanchis-Juan, A. | Megy, K. | Stephens, J. | +28

2

Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders

enthalten in: American journal of human genetics | 2023

von Sanchis-Juan, A. | Megy, K. | Stephens, J. | +29

3

Development and validation of a universal blood donor genotyping platform : a multinational prospective study

enthalten in: Blood advances | 2020

von Gleadall, N. | Veldhuisen, B. | Gollub, J. | +38

4

Author Correction : Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

enthalten in: Nature communications | 2020

von Wei, W. | Pagnamenta, A. | Gleadall, N. | +86

ErratumFor: Nat Commun. 2020 Apr 8;11(1):1740. - PMID 32269217

5

Whole-genome sequencing of patients with rare diseases in a national health system

enthalten in: Nature | 2020

von Turro, E. | Astle, W. | Megy, K. | +160

6

Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

enthalten in: Nature communications | 2020

von Wei, W. | Pagnamenta, A. | Gleadall, N. | +86

ErratumIn: Nat Commun. 2020 Jul 22;11(1):3741. - PMID 32699324

7

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

8

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders

enthalten in: Blood | 2019

von Downes, K. | Megy, K. | Duarte, D. | +35

CommentIn: Blood. 2019 Dec 5;134(23):2002-2003. - PMID 31805193

9

Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses

enthalten in: The Journal of experimental medicine | 2019

von Spencer, S. | Köstel Bal, S. | Egner, W. | +35

CommentIn: J Exp Med. 2019 Sep 2;216(9):1969-1971. - PMID 31235508

10

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