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Geert Mortier

Showing results (151-160 of 156) with videos related to

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American Journal of Human Genetics|June 21, 2011
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasiasCarine Le Goff, Clémentine Mahaut, Lauren W Wang, et al.
The Journal of Clinical Investigation|August 8, 2017
Inborn errors in RNA polymerase III underlie severe varicella zoster virus infectionsBenson Ogunjimi, Shen-Ying Zhang, Katrine B Sørensen, et al.
American Journal of Human Genetics|October 15, 2020
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation SyndromeAdrian Palencia-Campos, Phillip C Aoto, Erik M F Machal, et al.
American Journal of Human Genetics|January 22, 2013
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminusGea Beunders, Els Voorhoeve, Christelle Golzio, et al.
American Journal of Human Genetics|January 2, 2018
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848Magdalena Koczkowska, Yunjia Chen, Tom Callens, et al.
The New England Journal of Medicine|September 12, 2008
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypesHeather C Mefford, Andrew J Sharp, Carl Baker, et al.
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Showing results (151-160 of 156) with videos related to

Sort By:
Pageof 16
You have reached the last page of results.This site can display upto 156 results.
American Journal of Human Genetics|June 21, 2011
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasiasCarine Le Goff, Clémentine Mahaut, Lauren W Wang, et al.
The Journal of Clinical Investigation|August 8, 2017
Inborn errors in RNA polymerase III underlie severe varicella zoster virus infectionsBenson Ogunjimi, Shen-Ying Zhang, Katrine B Sørensen, et al.
American Journal of Human Genetics|October 15, 2020
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation SyndromeAdrian Palencia-Campos, Phillip C Aoto, Erik M F Machal, et al.
American Journal of Human Genetics|January 22, 2013
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminusGea Beunders, Els Voorhoeve, Christelle Golzio, et al.
American Journal of Human Genetics|January 2, 2018
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848Magdalena Koczkowska, Yunjia Chen, Tom Callens, et al.
The New England Journal of Medicine|September 12, 2008
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypesHeather C Mefford, Andrew J Sharp, Carl Baker, et al.
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