Search details
1.
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families.
Hum Mutat
; 35(10): 1203-10, 2014 Oct.
Article
in English
| MEDLINE | ID: mdl-25044680
2.
FOXI3 pathogenic variants cause one form of craniofacial microsomia.
Nat Commun
; 14(1): 2026, 2023 04 11.
Article
in English
| MEDLINE | ID: mdl-37041148
3.
Phenotypic and genotypic variability in four males with MECP2 gene sequence aberrations including a novel deletion.
Pediatr Res
; 67(5): 551-6, 2010 May.
Article
in English
| MEDLINE | ID: mdl-20098342
4.
Three novel mutations in greek sotos patients with rare clinical manifestations.
Horm Res
; 71(1): 45-51, 2009 Jan.
Article
in English
| MEDLINE | ID: mdl-19039236
5.
Tumor development in three patients with Noonan syndrome.
Eur J Pediatr
; 167(9): 1025-31, 2008 Sep.
Article
in English
| MEDLINE | ID: mdl-18057963
6.
Schimke immunoosseous dysplasia: suggestions of genetic diversity.
Hum Mutat
; 28(3): 273-83, 2007 Mar.
Article
in English
| MEDLINE | ID: mdl-17089404
7.
Cantú Syndrome Associated with Ovarian Agenesis.
Mol Syndromol
; 8(4): 206-210, 2017 Jun.
Article
in English
| MEDLINE | ID: mdl-28690487
8.
The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.
Eur J Hum Genet
; 21(3): 266-73, 2013 Mar.
Article
in English
| MEDLINE | ID: mdl-22872100
9.
MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders.
Brain Dev
; 34(6): 487-95, 2012 Jun.
Article
in English
| MEDLINE | ID: mdl-21982064
10.
A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder.
Eur J Paediatr Neurol
; 14(2): 188-91, 2010 Mar.
Article
in English
| MEDLINE | ID: mdl-19428276
11.
A clinical study of Sotos syndrome patients with review of the literature.
Pediatr Neurol
; 40(5): 357-64, 2009 May.
Article
in English
| MEDLINE | ID: mdl-19380072
Results
1 -
11
de 11
1
Next >
>>