Suchergebnisse - "Bergstrom, Katie"

PubPharm (33)

1

Germline genetic mutations in pediatric cerebrovascular anomalies : a multidisciplinary approach to screening, testing, and management

enthalten in: Journal of neurosurgery. Pediatrics | 2023

von LoPresti, M. | Du, R. | Lee, J. | +4

2

The genetics of vascular birthmarks

enthalten in: Clinics in dermatology | 2022

von Mahajan, P. | Bergstrom, K. | Phung, T. | +1

3

Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an "HHT-like" syndrome in children

enthalten in: Molecular genetics & genomic medicine | 2021

von Hodgson, J. | Ruiz-Llorente, L. | McDonald, J. | +13

4

Diagnostic work-up for severe aplastic anemia in children : Consensus of the North American Pediatric Aplastic Anemia Consortium

enthalten in: American journal of hematology | 2021

von Shimano, K. | Narla, A. | Rose, M. | +23

5

Diagnostic work‐up for severe aplastic anemia in children : Consensus of the North American Pediatric Aplastic Anemia Consortium

enthalten in: American Journal of Hematology | 2021

von Shimano, K. | Narla, A. | Rose, M. | +23

6

Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an “HHT‐like” syndrome in children

enthalten in: Molecular Genetics & Genomic Medicine | 2021

von Hodgson, J. | Ruiz‐Llorente, L. | McDonald, J. | +13

7

Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemia

enthalten in: Human mutation | 2020

von Bhar, S. | Zhou, F. | Reineke, L. | +13

8

Expansion of germline RPS20 mutation phenotype to include Diamond–Blackfan anemia

enthalten in: Human mutation | 2020

von Bhar, S. | Zhou, F. | Reineke, L. | +13

9

First case of neutropenia and thrombocytopenia in the setting of cerebral cavernous malformation 3

enthalten in: International journal of hematology | 2019

von Cohen, C. | Bergstrom, K. | Xiao, R. | +3

10

Correction : Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2019

von Hart, M. | Biesecker, B. | Blout, C. | +39

ErratumFor: Genet Med. 2019 May;21(5):1100-1110. - PMID 30287922