Paula Goldenberg
Paula Goldenberg
Massachusetts General Hospital, Harvard University
Geverifieerd e-mailadres voor partners.org
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Practical guidelines for managing patients with 22q11. 2 deletion syndrome
AS Bassett, DM McDonald-McGinn, K Devriendt, MC Digilio, ...
The Journal of pediatrics 159 (2), 332-339. e1, 2011
4552011
Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants
PS Kishnani, PC Goldenberg, SL DeArmey, J Heller, D Benjamin, ...
Molecular genetics and metabolism 99 (1), 26-33, 2010
3412010
Expanding the phenotype associated with NAA10 related N-terminal acetylation deficiency
Human Mutation, 2016
442016
Remarkable improvement in adult Leigh syndrome with partial cytochrome c oxidase deficiency
PC Goldenberg, RD Steiner, LS Merkens, T Dunaway, RA Egan, ...
Neurology 60 (5), 865-868, 2003
392003
Aortopathy in the 7q11. 23 microduplication syndrome
A Parrott, J James, P Goldenberg, RB Hinton, E Miller, A Shikany, ...
American Journal of Medical Genetics Part A 167 (2), 363-370, 2015
342015
Computerized neurocognitive profile in young people with 22q11. 2 deletion syndrome compared to youths with schizophrenia and At‐Risk for psychosis
PC Goldenberg, ME Calkins, J Richard, D McDonald‐McGinn, E Zackai, ...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 159 …, 2012
322012
An update on common chromosome microdeletion and microduplication syndromes
P Goldenberg
Pediatric Annals 47 (5), e198-e203, 2018
162018
Spectrum of KV2.1 Dysfunction in KCNB1‐Associated Neurodevelopmental Disorders
SK Kang, CG Vanoye, SN Misra, DM Echevarria, JD Calhoun, ...
Annals of neurology 86 (6), 899-912, 2019
132019
Evidence‐based medicine and practice guidelines: Application to genetics
HV Toriello, P Goldenberg
American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2009
112009
Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients
MD Levin, SC Saitta, KW Gripp, TL Wenger, J Ganesh, JM Kalish, ...
American Journal of Medical Genetics Part A 176 (8), 1711-1722, 2018
92018
Clinical experience with array CGH: Case presentations from nine months of practice
AF Poss, PC Goldenberg, CW Rehder, HM Kearney, EC Melvin, ...
American Journal of Medical Genetics Part A 140 (19), 2050-2056, 2006
92006
Cerebellar cognitive affective syndrome: insights from Joubert syndrome
CL Hickey, JC Sherman, P Goldenberg, A Kritzer, P Caruso, ...
Cerebellum & Ataxias 5 (1), 5, 2018
82018
Dilated cardiomyopathy in a 32-year-old woman with Russell–Silver syndrome
TD Ryan, A Gupta, D Gupta, P Goldenberg, MD Taylor, A Lorts, ...
Cardiovascular Pathology 23 (1), 21-27, 2014
82014
Chronic hepatitis C infection in a rural Medicaid HMO
SC Calvert JF, Goldenberg PC
Journal of Rural Health 21 (1), 74-8, 2005
82005
High burden of genetic conditions diagnosed in a cardiac neurodevelopmental clinic
PC Goldenberg, BJ Adler, A Parrott, J Anixt, K Mason, J Phillips, ...
Cardiology in the Young 27 (3), 459-466, 2017
72017
Left ventricular noncompaction in Noonan syndrome
RB Hinton, P Goldenberg, RC Godby, A Parrott, AG Shikany, BJ Landis, ...
J Genet Disor Genet Rep 5, 2, 2016
42016
Cardiac electrical system involvement in Alström syndrome: uncommon causes of dilated cardiomyopathies
RJ Czosek, P Goldenberg, EM Miller, R Spicer, JA Towbin, SM Ware
Cardiogenetics 2 (1), e2-e2, 2012
32012
Congenital heart defects associated with aneuploidy syndromes: New insights into familiar associations
AE Lin, S Santoro, FA High, P Goldenberg, I Gutmark‐Little
American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2020
22020
Pharyngeal flap using carotid artery mobilization in 22q11. 2 deletion syndrome with velopharyngeal insufficiency
M Greenberg, C Caloway, C Hersh, D Ryan, P Goldenberg, C Hartnick
International journal of pediatric otorhinolaryngology 120, 130-133, 2019
12019
A Comprehensive Clinical Genetics Approach to Critical Congenital Heart Disease in Infancy
AR Shikany, BJ Landis, A Parrott, EM Miller, A Coyan, L Walters, ...
The Journal of Pediatrics, 2020
2020
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Artikelen 1–20