scholarly journals Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A ( KIF1A )

2020 ◽  
Vol 41 (10) ◽  
pp. 1761-1774 ◽  
Author(s):  
Simranpreet Kaur ◽  
Nicole J. Van Bergen ◽  
Kristen J. Verhey ◽  
Cameron J. Nowell ◽  
Breane Budaitis ◽  
...  
Keyword(s):  
Family Member ◽  
De Novo ◽  
Missense Variants ◽  
Phenotypic Spectrum ◽  
Kinesin Family

scholarly journals Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants

2020 ◽  
Vol 98 (2) ◽  
pp. 191-197 ◽  
Author(s):  
Eleanor Hay ◽  
Robert H. Henderson ◽  
Sahar Mansour ◽  
Charu Deshpande ◽  
Rachel Jones ◽  
...  
Keyword(s):  
De Novo ◽  
Missense Variants ◽  
Phenotypic Spectrum

scholarly journals De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females

Neurogenetics ◽  
2020 ◽  
Author(s):  
Marcello Scala ◽  
Evelien Zonneveld-Huijssoon ◽  
Marianna Brienza ◽  
Oriano Mecarelli ◽  
Annemarie H. van der Hout ◽  
...  
Keyword(s):  
De Novo ◽  
Neurodevelopmental Disorder ◽  
Missense Variants ◽  
Phenotypic Spectrum

Author response for "Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants"

2020 ◽  
Author(s):  
Eleanor Hay ◽  
Robert H. Henderson ◽  
Sahar Mansour ◽  
Charu Deshpande ◽  
Rachel Jones ◽  
...  
Keyword(s):  
De Novo ◽  
Author Response ◽  
Missense Variants ◽  
Phenotypic Spectrum

Author response for "Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants"

2020 ◽  
Author(s):  
Eleanor Hay ◽  
Robert H. Henderson ◽  
Sahar Mansour ◽  
Charu Deshpande ◽  
Rachel Jones ◽  
...  
Keyword(s):  
De Novo ◽  
Author Response ◽  
Missense Variants ◽  
Phenotypic Spectrum
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