Články se zplnomocněním k veřejnému přístupu - Amanda BergnerDalší informace
Dostupné někde: 16
Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas
A Piotrowski, J Xie, YF Liu, AB Poplawski, AR Gomes, P Madanecki, C Fu, ...
Nature genetics 46 (2), 182-187, 2014
Zplnomocnění: US National Institutes of Health, Children's Tumor Foundation, USA
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation
SR Plotkin, L Messiaen, E Legius, P Pancza, RA Avery, JO Blakeley, ...
Genetics in Medicine 24 (9), 1967-1977, 2022
Zplnomocnění: US National Institutes of Health, National Institute for Health Research, UK …
Increased risk of breast cancer in women with NF1
SA Madanikia, A Bergner, X Ye, JON Blakeley
American journal of medical genetics Part A 158 (12), 3056-3060, 2012
Zplnomocnění: US National Institutes of Health
Spectrum and prevalence of vasculopathy in pediatric neurofibromatosis type 1
B Kaas, TAGM Huisman, A Tekes, A Bergner, JO Blakeley, LC Jordan
Journal of Child Neurology 28 (5), 561-569, 2013
Zplnomocnění: US National Institutes of Health
Mutation analysis of B3GALTL in Peters Plus syndrome
LM Reis, RC Tyler, O Abdul‐Rahman, P Trapane, R Wallerstein, ...
American Journal of Medical Genetics Part A 146 (20), 2603-2610, 2008
Zplnomocnění: US National Institutes of Health
Introduction of sapropterin dihydrochloride as standard of care in patients with phenylketonuria
HJ Vernon, CB Koerner, MR Johnson, A Bergner, A Hamosh
Molecular genetics and metabolism 100 (3), 229-233, 2010
Zplnomocnění: US National Institutes of Health
Patient-reported outcomes of pain and physical functioning in neurofibromatosis clinical trials
PL Wolters, S Martin, VL Merker, JH Tonsgard, SE Solomon, A Baldwin, ...
Neurology 87 (7_Supplement_1), S4-S12, 2016
Zplnomocnění: US National Institutes of Health
Informed consent for exome sequencing research in families with genetic disease: the emerging issue of incidental findings
AL Bergner, J Bollinger, KS Raraigh, C Tichnell, B Murray, CL Blout, ...
American Journal of Medical Genetics Part A 164 (11), 2745-2752, 2014
Zplnomocnění: US National Institutes of Health
Clinical response to bevacizumab in schwannomatosis
J Blakeley, KC Schreck, DG Evans, BR Korf, D Zagzag, MA Karajannis, ...
Neurology 83 (21), 1986-1987, 2014
Zplnomocnění: US National Institutes of Health
Choices for return of primary and secondary genomic research results of 790 members of families with Mendelian disease
K Fiallos, C Applegate, DJH Mathews, J Bollinger, AL Bergner, CA James
European Journal of Human Genetics 25 (5), 530-537, 2017
Zplnomocnění: US National Institutes of Health
Enrolling genomics research participants through a clinical setting: the impact of existing clinical relationships on informed consent and expectations for return of research …
C Berrios, CA James, K Raraigh, J Bollinger, B Murray, C Tichnell, ...
Journal of genetic counseling 27, 263-273, 2018
Zplnomocnění: US National Institutes of Health
Dystrophic spinal deformities in a neurofibromatosis type 1 murine model
SD Rhodes, W Zhang, D Yang, H Yang, S Chen, X Wu, X Li, X Yang, ...
PloS one 10 (3), e0119093, 2015
Zplnomocnění: US National Institutes of Health, Children's Tumor Foundation, USA
Improvement in patient-reported hearing after treatment with bevacizumab in people with neurofibromatosis type 2
V Huang, AL Bergner, C Halpin, VL Merker, MR Sheridan, BC Widemann, ...
Otology & Neurotology 39 (5), 632-638, 2018
Zplnomocnění: US Department of Defense, US National Institutes of Health, Children's Tumor …
Creation of an international registry to support discovery in schwannomatosis
KL Ostrow, AL Bergner, J Blakeley, DG Evans, R Ferner, JM Friedman, ...
American Journal of Medical Genetics Part A 173 (2), 407-413, 2017
Zplnomocnění: National Institute for Health Research, UK, Children's Tumor Foundation, USA
Knowledge and beliefs about epilepsy genetics among Hispanic and non‐Hispanic patients
S Trujillo, JB Wetmore, IA Camarillo, S Misiewicz, H May, H Choi, K Siegel, ...
Epilepsia 64 (9), 2443-2453, 2023
Zplnomocnění: US National Institutes of Health
Patient-reported outcomes of pain and physical functioning in neurofibromatosis clinical trials.
CO Hanemann, PL Wolters, S Martin, VL Merker, JH Tonsgard, ...
Ovid Technologies (Wolters Kluwer Health), 2016
Zplnomocnění: US National Institutes of Health
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