Suchergebnisse - "Kurth, Ingo"

PubPharm (6)

1

DDX41 germline variants causing donor cell leukemia indicate a need for further genetic workup in the context of hematopoietic stem cell transplantation

enthalten in: Blood cancer journal | 2023

von Rolles, B. | Meyer, R. | Begemann, M. | +6

2

Genetic (Re-)evaluation to Optimize the Care of Adults With Intellectual Disability

enthalten in: Deutsches Arzteblatt international | 2022

von Knopp, C. | Steiner, R. | Lausberg, E. | +11

CommentOn: Genet Med. 2022 Jul;24(7):1536-1544. - PMID 35416776

3

Pain insensitivity : distal S6-segment mutations in NaV1.9 emerge as critical hotspot

enthalten in: Neurogenetics | 2017

von King, M. | Leipold, E. | Goehringer, J. | +2

4

Hereditary Sensory Polyneuropathy, Pain Insensitivity and Global Developmental Delay due to Novel Mutation in PRDM12 Gene

enthalten in: Indian journal of pediatrics | 2017

von Saini, A. | Padmanabh, H. | Sahu, J. | +3

5

The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P

enthalten in: European journal of human genetics : EJHG | 2015

von Woods, C. | Babiker, M. | Horrocks, I. | +2

ErratumIn: Eur J Hum Genet. 2015 Oct;23(10):1434. - PMID 26376683

6

Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia

enthalten in: Nature genetics | 2009

von Kurth, I. | Klopocki, E. | Stricker, S. | +9

CommentOn: Nat Genet. 2009 Mar;41(3):359-64. - PMID 19234473

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