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Care 4 Rare Canada Consortium
4  Ergebnisse:
Personensuche X
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1

Biallelic sequence variants in INTS1 in patients with devel..:

Care 4 Rare Canada Consortium ; Krall, Max ; Htun, Stephanie...
European Journal of Human Genetics.  27 (2019)  4 - p. 582-593 , 2019
Link: https://doi.org/10.1038/..
 
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2

Lin‐Gettig syndrome: Craniosynostosis expands the spectrum ..:

Bashir, Rani A. ; Dixit, Abhijit ; Goedhart, Caitlin...
American Journal of Medical Genetics Part A.  173 (2017)  10 - p. 2596-2604 , 2017
Link: https://doi.org/10.1002/..
 
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3

Cover Image, Volume 173A, Number 10, October 2017:

Bashir, Rani A. ; Dixit, Abhijit ; Goedhart, Caitlin...
American Journal of Medical Genetics Part A.  173 (2017)  10 - p. , 2017
Link: https://doi.org/10.1002/..
 
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4

De novo germline and postzygotic mutations in AKT3, PIK3R2 ..:

Finding of Rare Disease Genes (FORGE) Canada Consortium ; Rivière, Jean-Baptiste ; Mirzaa, Ghayda M...
Nature Genetics.  44 (2012)  8 - p. 934-940 , 2012
Link: https://doi.org/10.1038/..
 
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