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American Journal of Medical Genetics Part A
Article . 2008 . Peer-reviewed
License: Wiley Online Library User Agreement
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Absence of NOTCH2 and Hey2 mutations in a familial Alagille syndrome case with a novel frameshift mutation in JAG1

Authors: Inaam, El-Rassy; Jad, Bou-Abdallah; Sara, Al-Ghadban; Fadi, Bitar; Georges, Nemer;

Absence of NOTCH2 and Hey2 mutations in a familial Alagille syndrome case with a novel frameshift mutation in JAG1

Abstract

ELMSLIE FV, 1995, J MED GENET, V32, P264, DOI 10.1136-jmg.32.4.264; Fischer A, 2004, MAMM GENOME, V15, P711, DOI 10.1007-s00335-004-2389-x; Krantz Ian D., 1999, Current Opinion in Pediatrics, V11, P558, DOI 10.1097-00008480-199912000-00015; McCright B, 2002, DEVELOPMENT, V129, P1075; McDaniell R, 2006, AM J HUM GENET, V79, P169, DOI 10.1086-505332; Nabulsi MM, 2003, AM J MED GENET A, V116A, P342, DOI 10.1002-ajmg.a.10020; Sakata Y, 2006, J MOL CELL CARDIOL, V40, P267, DOI 10.1016-j.yjmcc.2005.09.006; Warthen DM, 2006, HUM MUTAT, V27, P436, DOI 10.1002-humu.20310; Xue YZ, 1999, HUM MOL GENET, V8, P723, DOI 10.1093-hmg-8.5.723

Related Organizations
Keywords

Male, Calcium-Binding Proteins, Membrane Proteins, Pedigree, Alagille Syndrome, Repressor Proteins, Basic Helix-Loop-Helix Transcription Factors, Humans, Intercellular Signaling Peptides and Proteins, Female, Serrate-Jagged Proteins, Receptor, Notch2, Frameshift Mutation, Jagged-1 Protein

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    This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    7
    popularity
    This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
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Powered by OpenAIRE graph
citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
7
Average
Average
Average