scholarly journals Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis

2010 ◽  
Vol 152A (7) ◽  
pp. 1781-1788 ◽  
Author(s):  
Anne-Claude Tabet ◽  
Azzedine Aboura ◽  
Marion Gérard ◽  
Marion Pilorge ◽  
Céline Dupont ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
De Novo

scholarly journals Identification and molecular characterization of de novo translocation t(8;14)(q22.3;q13) associated with a vascular and tissue overgrowth syndrome

2001 ◽  
Vol 95 (3-4) ◽  
pp. 183-188 ◽  
Author(s):  
Q. Wang ◽  
A.A. Timur ◽  
P. Szafranski ◽  
A. Sadgephour ◽  
V. Jurecic ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
De Novo ◽  
Overgrowth Syndrome ◽  
De Novo Translocation

Clinical and molecular characterization of de novo loss of function variants inHNRNPU

2017 ◽  
Vol 173 (10) ◽  
pp. 2680-2689 ◽  
Author(s):  
Magalie S. Leduc ◽  
Hsiao-Tuan Chao ◽  
Chunjing Qu ◽  
Magdalena Walkiewicz ◽  
Rui Xiao ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
De Novo ◽  
Loss Of Function

Cytogenetic and molecular characterization of a de-novo cryptic deletion of 7p21 associated with an apparently balanced translocation and complex craniosynostosis

2007 ◽  
Vol 16 (4) ◽  
pp. 253-256 ◽  
Author(s):  
Shashirekha Shetty ◽  
Kym M. Boycott ◽  
Tanya L. Gillan ◽  
Kathy Bowser ◽  
Jillian S. Parboosingh ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
De Novo ◽  
Balanced Translocation

Molecular Characterization of Younger Indian Patients with De Novo Myelodysplastic Syndromes: AIIMS Experience

2017 ◽  
Vol 55 ◽  
pp. S138
Author(s):  
R. Chaubey ◽  
S. Sazawal ◽  
M. Mahapatra ◽  
S. Chhikara ◽  
R. Saxena
Keyword(s):  
Molecular Characterization ◽  
Myelodysplastic Syndromes ◽  
De Novo ◽  
Indian Patients

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

Identification and molecular characterization of a small 11q23.3 de novo duplication in a patient with Rett syndrome manifestations

1998 ◽  
Vol 80 (3) ◽  
pp. 273-280 ◽  
Author(s):  
Bruno Delobel ◽  
Val�rie Delannoy ◽  
Giorgio Pini ◽  
Michele Zapella ◽  
Marc Tardieu ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Rett Syndrome ◽  
De Novo

Molecular characterization of 39 de novo sSMC : contribution to prognosis and genetic counselling, a prospective study

2013 ◽  
Vol 85 (3) ◽  
pp. 233-244 ◽  
Author(s):  
N. Marle ◽  
D. Martinet ◽  
A. Aboura ◽  
G. Joly‐Helas ◽  
J. Andrieux ◽  
...  
Keyword(s):  
Prospective Study ◽  
Molecular Characterization ◽  
Genetic Counselling ◽  
De Novo ◽  
A Prospective Study
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