Phenotypic and Molecular Characterization of Partial Trisomy 2q Resulting from Insertion-Duplication in Chromosome 18q: A Case Report and Review of Literature

2012 ◽  
Vol 136 (3) ◽  
pp. 229-234
Author(s):  
R. Ponnala ◽  
P. Ranganath ◽  
U.R. Dutta ◽  
V.K. Pidugu ◽  
A.B. Dalal
Keyword(s):  
Case Report ◽  
Molecular Characterization ◽  
Partial Trisomy ◽  
Review Of Literature ◽  
Chromosome 18Q

scholarly journals Molecular characterization of an analphoid supernumerary marker chromosome derived from 18q22.1→qter in prenatal diagnosis: a case report

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Oronzo Capozzi ◽  
Maria Cristina Marzano ◽  
Oriana Catapano ◽  
Immacolata Di Biase ◽  
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Case Report ◽  
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Molecular Characterization ◽  
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Feasibility of RNA studies on illegitimate transcription for molecular characterization of splicing mutations in the ATP7B gene: A case report

2012 ◽  
Vol 26 (2) ◽  
pp. 63-65 ◽  
Author(s):  
Antonietta Zappu ◽  
Maria Barbara Lepori ◽  
Simona Incollu ◽  
Valentina Dessì ◽  
Maria Cristina Noli ◽  
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Keyword(s):  
Case Report ◽  
Molecular Characterization ◽  
Atp7b Gene ◽  
Splicing Mutations ◽  
Illegitimate Transcription

scholarly journals Case Report Molecular characterization of microduplication 22q11.2 in a girl with hypernasal speech

2011 ◽  
Vol 10 (3) ◽  
pp. 2148-2154 ◽  
Author(s):  
Y. Soysal ◽  
J. Vermeesch ◽  
N.A. Davani ◽  
N. Şensoy ◽  
K. Hekimler ◽  
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Keyword(s):  
Case Report ◽  
Molecular Characterization ◽  
Hypernasal Speech

scholarly journals Chordoid Glioma: A Case Report and Molecular Characterization of Five Cases

2009 ◽  
Vol 19 (3) ◽  
pp. 439-448 ◽  
Author(s):  
Craig Horbinski ◽  
Sanja Dacic ◽  
Roger E. McLendon ◽  
Kathy Cieply ◽  
Michael Datto ◽  
...  
Keyword(s):  
Case Report ◽  
Molecular Characterization ◽  
Chordoid Glioma

Oestrosis in Asiatic ibex ( Capra sibirica ): a case report and molecular characterization of larvae

2017 ◽  
Vol 236 ◽  
pp. 55-57 ◽  
Author(s):  
Antonio Sánchez ◽  
Noelia Caparrós ◽  
Stephane Ostrowski ◽  
Mathieu Sarasa ◽  
Jesús M. Pérez
Keyword(s):  
Case Report ◽  
Molecular Characterization
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