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Author/Creator Gropman, Andrea L.

1. 47, XXY Klinefelter syndrome: Clinical characteristics and age‐specific recommendations for medical management1. Issue 1 (23rd January 2013)

Authors:
Aksglaede, Lise; Link, Katarina; Giwercman, Aleksander; Jørgensen, Niels; Skakkebæk, Niels E; Juul, Anders; Samango‐Sprouse, Carole A.; Gropman, Andrea L.
Journal:
American journal of medical genetics
Issue:
Volume 163:Issue 1(2013)
Page Start:
55
Record Type:
Journal Article
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2. A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease. Issue 5 (9th March 2020)

Authors:
Burke, Elizabeth A.; Reichard, Kyle E.; Wolfe, Lynne A.; Brooks, Brian P.; DiGiovanna, John J.; Hadley, Donald W.; Lehky, Tanya J.; Gropman, Andrea L.; Tifft, Cynthia J.; Gahl, William A.; Toro, Camilo; Adams, David
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 5(2020)
Page Start:
1278
Record Type:
Journal Article
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4. Altered neural activation in ornithine transcarbamylase deficiency during executive cognition: An fMRI study. Issue 4 (23rd November 2011)

Authors:
Gropman, Andrea L.; Shattuck, Kyle; Prust, Morgan J.; Seltzer, Rebecca R.; Breeden, Andrew L.; Hailu, Ayichew; Rigas, Amanda; Hussain, Rehan; VanMeter, John
Journal:
Human brain mapping
Issue:
Volume 34:Issue 4(2013:Apr.)
Page Start:
753
Record Type:
Journal Article
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5. Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma. (August 2018)

Authors:
Machol, Keren; Jankovic, Joseph; Vijayakumar, Dhanya; Burrage, Lindsay C.; Jain, Mahim; Lewis, Richard A.; Fuller, Gregory N.; Xu, Mingchu; Penas-Prado, Marta; Gule-Monroe, Maria K.; Rosenfeld, Jill A.; Chen, Rui; Eng, Christine M.; Yang, Yaping; Lee, Brendan H.; Moretti, Paolo M.; Dhar, Shweta U...
Journal:
Neurology
Issue:
Volume 4:Number 4(2018)
Page Start:
Record Type:
Journal Article
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8. Compound heterozygosity for loss‐of‐function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation. Issue 10 (14th July 2017)

Authors:
Oprescu, Stephanie N.; Chepa‐Lotrea, Xenia; Takase, Ryuichi; Golas, Gretchen; Markello, Thomas C.; Adams, David R.; Toro, Camilo; Gropman, Andrea L.; Hou, Ya‐Ming; Malicdan, May Christine V.; Gahl, William A.; Tifft, Cynthia J.; Antonellis, Anthony
Journal:
Human mutation
Issue:
Volume 38:Issue 10(2017)
Page Start:
1412
Record Type:
Journal Article
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9. Cover Image, Volume 38, Issue 10. Issue 10 (14th September 2017)

Authors:
Oprescu, Stephanie N.; Chepa‐Lotrea, Xenia; Takase, Ryuichi; Golas, Gretchen; Markello, Thomas C.; Adams, David R.; Toro, Camilo; Gropman, Andrea L.; Hou, Ya‐Ming; Malicdan, May Christine V.; Gahl, William A.; Tifft, Cynthia J.; Antonellis, Anthony
Journal:
Human mutation
Issue:
Volume 38:Issue 10(2017)
Page Start:
i
Record Type:
Journal Article
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10. Early prediction of phenotypic severity in Citrullinemia Type 1. Issue 9 (30th August 2019)

Authors:
Zielonka, Matthias; Kölker, Stefan; Gleich, Florian; Stützenberger, Nicolas; Nagamani, Sandesh C. S.; Gropman, Andrea L.; Hoffmann, Georg F.; Garbade, Sven F.; Posset, Roland
Other Names:
Sarajlija Adrijan investigator.; Skouma Anastasia investigator.; Schulze Andreas investigator.; Garcia‐Cazorla Angeles investigator.; Melgaard Lund Allan investigator.; Jalan Anil investigator.; Morris Andrew investigator.; Dionisi‐Vici Carlo investigator.; De Laet Corinne investigator.; Leão Tel...
Journal:
Annals of clinical and translational neurology
Issue:
Volume 6:Issue 9(2019)
Page Start:
1858
Record Type:
Journal Article
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