scholarly journals PARK2 Microduplication: Clinical and Molecular Characterization of a Further Case and Review of the Literature

2016 ◽  
Vol 7 (5) ◽  
pp. 282-286 ◽  
Author(s):  
Orazio Palumbo ◽  
Pietro Palumbo ◽  
Maria P. Leone ◽  
Raffaella Stallone ◽  
Teresa Palladino ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Review Of The Literature

Phenotypic and molecular characterization of a novelDCXdeletion and a review of the literature

2009 ◽  
Vol 76 (2) ◽  
pp. 214-218 ◽  
Author(s):  
A Chou ◽  
C Boerkoel ◽  
C du Souich ◽  
R Rupps
Keyword(s):  
Molecular Characterization ◽  
Review Of The Literature

scholarly journals Interstitial de novo 18q22.3q23 deletion: clinical, neuroradiological and molecular characterization of a new case and review of the literature

2016 ◽  
Vol 9 (1) ◽  
Author(s):  
Elisa Tassano ◽  
Mariasavina Severino ◽  
Silvia Rosina ◽  
Riccardo Papa ◽  
Domenico Tortora ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
De Novo ◽  
Review Of The Literature

A further case of familial ring chromosome 20 mosaicism - molecular characterization of the ring and review of the literature

2019 ◽  
Vol 62 (11) ◽  
pp. 103564 ◽  
Author(s):  
Iris Unterberger ◽  
Judith Dobesberger ◽  
Harald Schober ◽  
Birgit Krabichler ◽  
Claudia Lamina ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Ring Chromosome ◽  
Review Of The Literature ◽  
Chromosome 20

7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature

2015 ◽  
Vol 58 (11) ◽  
pp. 578-583 ◽  
Author(s):  
Rossella Caselli ◽  
Lucia Ballarati ◽  
Aglaia Vignoli ◽  
Angela Peron ◽  
Maria Paola Recalcati ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Review Of The Literature ◽  
Adult Case

Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature

2017 ◽  
Vol 173 (7) ◽  
pp. 1922-1930 ◽  
Author(s):  
Rita Fischetto ◽  
Orazio Palumbo ◽  
Federica Ortolani ◽  
Pietro Palumbo ◽  
Maria Pia Leone ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Review Of The Literature ◽  
Microdeletion Syndrome

scholarly journals Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature

2016 ◽  
Vol 9 (1) ◽  
Author(s):  
Edoardo Errichiello ◽  
Francesca Novara ◽  
Anna Cremante ◽  
Annapia Verri ◽  
Jessica Galli ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Review Of The Literature

Molecular characterization of a patient with 3p deletion syndrome and a review of the literature

2008 ◽  
Vol 146A (21) ◽  
pp. 2746-2752 ◽  
Author(s):  
Thomas V. Fernandez ◽  
I.J. García-González ◽  
Christopher E. Mason ◽  
G. Hernández-Zaragoza ◽  
V.C. Ledezma-Rodríguez ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Deletion Syndrome ◽  
Review Of The Literature ◽  
3P Deletion Syndrome
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