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1.
Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans.
J Med Genet
; 60(3): 294-300, 2023 03.
Article
in English
| MEDLINE | ID: mdl-35790350
2.
Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum.
Am J Med Genet A
; 179(3): 386-396, 2019 03.
Article
in English
| MEDLINE | ID: mdl-30652412
3.
Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis.
Genet Med
; 20(7): 745-753, 2018 07.
Article
in English
| MEDLINE | ID: mdl-29261186
4.
Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.
J Med Genet
; 52(5): 303-11, 2015 May.
Article
in English
| MEDLINE | ID: mdl-25650066
5.
Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations.
Am J Hum Genet
; 85(1): 106-11, 2009 Jul.
Article
in English
| MEDLINE | ID: mdl-19559399
6.
Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation.
Am J Hum Genet
; 82(5): 1150-7, 2008 May.
Article
in English
| MEDLINE | ID: mdl-18455129
7.
[Early gene expression dysregulation and intellectual disability]. / Dérégulation de l'expression des gènes à réponse précoce et déficience intellectuelle.
Med Sci (Paris)
; 28(2): 128-9, 2012 Feb.
Article
in French
| MEDLINE | ID: mdl-22377293
8.
MED23 mutation links intellectual disability to dysregulation of immediate early gene expression.
Science
; 333(6046): 1161-3, 2011 Aug 26.
Article
in English
| MEDLINE | ID: mdl-21868677
9.
Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition.
Eur J Hum Genet
; 18(3): 285-90, 2010 Mar.
Article
in English
| MEDLINE | ID: mdl-19844254
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