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Volume 57; Issue 5
Main
Journal of Medical Genetics
Volume 57; Issue 5
Journal of Medical Genetics
Volume 57; Issue 5
1
The clinical relevance of intragenic NRXN1 deletions
Cosemans, Nele
,
Vandenhove, Laura
,
Vogels, Annick
,
Devriendt, Koenraad
,
Van Esch, Hilde
,
Van Buggenhout, Griet
,
Olivié, Hilde
,
de Ravel, Thomy
,
Ortibus, Els
,
Legius, Eric
,
Aerssens, Peter
,
Breckpot,
Journal:
Journal of Medical Genetics
Year:
2020
File:
PDF, 1.48 MB
Your tags:
2020
2
Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome
Aloui, Chaker
,
Guey, Stéphanie
,
Pipiras, Eva
,
Kossorotoff, Manoelle
,
Guéden, Sophie
,
Corpechot, Michaelle
,
Bessou, Pierre
,
Pedespan, Jean-Michel
,
Husson, Marie
,
Hervé, Dominique
,
Riant, Florence
,
K
Journal:
Journal of Medical Genetics
Year:
2020
File:
PDF, 580 KB
Your tags:
2020
3
Disruption of normal patterns of FOXF1 expression in a lethal disorder of lung development
Steiner, Laurie A
,
Getman, Michael
,
Schiralli Lester, Gillian M
,
Iqbal, M Anwar
,
Katzman, Philip
,
Szafranski, Przemyslaw
,
Stankiewicz, Pawel
,
Bhattacharya, Soumyaroop
,
Mariani, Thomas
,
Pryhuber, Glori
Journal:
Journal of Medical Genetics
Year:
2020
File:
PDF, 2.05 MB
Your tags:
2020
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