Multiplex ligation-dependent probe amplification (MLPA) and prenatal diagnosis
Willis, Alecia S., van den Veyver, Ignatia, Eng, Christine M.
Published in Prenatal diagnosis (01.04.2012)
Published in Prenatal diagnosis (01.04.2012)
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Journal Article
Lysinuric Protein Intolerance Presenting with Multiple Fractures
Posey, Jennifer E, Burrage, Lindsay C, Miller, Marcus J, Liu, Pengfei, Hardison, Matthew T, Elsea, Sarah H, Sun, Qin, Yang, Yaping, Willis, Alecia S, Schlesinger, Alan E, Bacino, Carlos A, Lee, Brendan H
Published in Molecular genetics and metabolism reports (01.01.2014)
Published in Molecular genetics and metabolism reports (01.01.2014)
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Journal Article
Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome
Vatta, Matteo, Niu, Zhiyv, Lupski, James R., Putnam, Philip, Spoonamore, Katherine G., Fang, Ping, Eng, Christine M., Willis, Alecia S.
Published in American journal of medical genetics. Part A (01.12.2013)
Published in American journal of medical genetics. Part A (01.12.2013)
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Journal Article
Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutation
Mendiratta, Meenal S, Yang, Yaping, Balazs, Andrea E, Willis, Alecia S, Eng, Christine M, Karaviti, Lefkothea P, Potocki, Lorraine
Published in International journal of pediatric endocrinology (06.07.2011)
Published in International journal of pediatric endocrinology (06.07.2011)
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Journal Article
An ethnic-specific polymorphism in the catalytic subunit of glutamate-cysteine ligase impairs the production of glutathione intermediates in vitro
Le, Truc M., Willis, Alecia S., Barr, Frederick E., Cunningham, Gary R., Canter, Jeffrey A., Owens, Sarah E., Apple, Rachel K., Ayodo, George, Reich, David, Summar, Marshall L.
Published in Molecular genetics and metabolism (01.09.2010)
Published in Molecular genetics and metabolism (01.09.2010)
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Journal Article
An Insertion/Deletion Polymorphism in the Glutathione Biosynthesis Pathway Is Associated with Earlier Onset of Alzheimer's Disease and Increased Susceptibility to Oxidant Injury In Vitro
Le, Truc M., Willis, Alecia S., Haines, Jonathan L., Summar, Marshall L., Cornfield, David N.
Published in Free radical biology & medicine (2010)
Published in Free radical biology & medicine (2010)
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Journal Article
Lysinuric Protein Intolerance Presenting with Multiple Fractures
Posey, Jennifer E, Burrage, Lindsay C, Miller, Marcus J, Liu, Pengfei, Hardison, Matthew T, Elsea, Sarah H, Sun, Qin, Yang, Yaping, Willis, Alecia S, Schlesinger, Alan E, Bacino, Carlos A, Lee, Brendan H
Published in Molecular genetics and metabolism reports (01.01.2014)
Get full text
Published in Molecular genetics and metabolism reports (01.01.2014)
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