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1.
A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype.
J Med Genet
; 53(8): 523-32, 2016 08.
Article
in English
| MEDLINE | ID: mdl-27075013
2.
De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.
Am J Med Genet A
; 167A(10): 2231-7, 2015 Oct.
Article
in English
| MEDLINE | ID: mdl-26079862
3.
Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.
J Med Genet
; 51(12): 806-13, 2014 Dec.
Article
in English
| MEDLINE | ID: mdl-25342064
4.
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.
J Med Genet
; 51(10): 659-68, 2014 Oct.
Article
in English
| MEDLINE | ID: mdl-25125236
5.
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.
Nat Genet
; 49(2): 249-255, 2017 Feb.
Article
in English
| MEDLINE | ID: mdl-28067911
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