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Astrid Bauer‐Carlin
Observed name:
Astrid Bauer-Carlin
Institution:
Greenwood Genetic Center
Observed institutions:
Rady Children's Hospital-San Diego,
Greenwood Genetic Center
OpenAlex ID:
A5059813914
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene
2007
·
Charles E Schwartz
, Patrick S Tarpey
, et al.
·
Journal of Medical Genetics
·
176
A Neurodevelopmental Survey of Angelman Syndrome With Genotype-Phenotype Correlations
2010
·
Jennifer K. Gentile
, Wen-Hann Tan
, et al.
·
Journal of Developmental & Behavioral Pediatrics
·
157
Angelman syndrome: Mutations influence features in early childhood
2010
·
Wen‐Hann Tan
, Carlos A. Bacino
, et al.
·
American Journal of Medical Genetics Part A
·
127
A therapeutic trial of pro‐methylation dietary supplements in Angelman syndrome
2011
·
Lynne M. Bird
, Wen‐Hann Tan
, et al.
·
American Journal of Medical Genetics Part A
·
52
PDF
gene MED12 missense mutation (p.N1007S) in the The original Lujan syndrome family has a novel
2008
·
E. C. Stevenson
, Julie R. Jones
, et al.
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Works count:
5
Citation count:
512
H-index:
4
I10-index:
4
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