Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-noonan syndrome

2013 ◽  
Vol 164 (3) ◽  
pp. 579-587 ◽  
Author(s):  
Sara Ekvall ◽  
Kerstin Sjörs ◽  
Anders Jonzon ◽  
Mauno Vihinen ◽  
Göran Annerén ◽  
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Keyword(s):  
Neurofibromatosis Type 1 ◽  
Noonan Syndrome ◽  
Neurofibromatosis Type ◽  
Novel Association

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Manish Jaiswal ◽  
Devendra Purohit ◽  
RS Mittal
Keyword(s):  
Neurofibromatosis Type 1 ◽  
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Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome

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Vol 75 (3) ◽  
pp. 265-272 ◽  
Author(s):  
Michel Bahuau ◽  
Claude Houdayer ◽  
Brigitte Assouline ◽  
Claudine Blanchet-Bardon ◽  
Martine Le Merrer ◽  
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Keyword(s):  
Neurofibromatosis Type 1 ◽  
Noonan Syndrome ◽  
Nonsense Mutation ◽  
Neurofibromatosis Type

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2019 ◽  
Vol 179 (12) ◽  
pp. 2433-2446 ◽  
Author(s):  
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Rebekah L. Hudock ◽  
Allison M. H. Foy ◽  
Ryan Shanley ◽  
Margaret Semrud‐Clikeman ◽  
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Keyword(s):  
Neurofibromatosis Type 1 ◽  
Noonan Syndrome ◽  
Emotional Functioning ◽  
Neurofibromatosis Type

scholarly journals Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1

2018 ◽  
Vol 10 (1) ◽  
Author(s):  
Elizabeth I. Pierpont ◽  
Rebekah L. Hudock ◽  
Allison M. Foy ◽  
Margaret Semrud-Clikeman ◽  
Mary Ella Pierpont ◽  
...  
Keyword(s):  
Social Skills ◽  
Neurofibromatosis Type 1 ◽  
Noonan Syndrome ◽  
Neurofibromatosis Type
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