Search details
1.
Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications.
Am J Med Genet B Neuropsychiatr Genet
; 177(4): 397-405, 2018 06.
Article
in English
| MEDLINE | ID: mdl-29603867
2.
Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability.
J Pediatr
; 185: 160-166.e1, 2017 06.
Article
in English
| MEDLINE | ID: mdl-28284480
3.
WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.
J Med Genet
; 52(1): 61-70, 2015 Jan.
Article
in English
| MEDLINE | ID: mdl-25411445
4.
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
J Med Genet
; 51(11): 724-36, 2014 Nov.
Article
in English
| MEDLINE | ID: mdl-25167861
5.
Primary Non-Aortic Lesions Are Not Rare in Marfan Syndrome and Are Associated with Aortic Dissection Independently of Age.
J Clin Med
; 12(8)2023 Apr 17.
Article
in English
| MEDLINE | ID: mdl-37109238
6.
Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.
JAMA
; 305(22): 2304-10, 2011 Jun 08.
Article
in English
| MEDLINE | ID: mdl-21642682
7.
Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors.
Invest Ophthalmol Vis Sci
; 61(11): 18, 2020 09 01.
Article
in English
| MEDLINE | ID: mdl-32915983
8.
The contribution of large genomic deletions at the CDKN2A locus to the burden of familial melanoma.
Br J Cancer
; 99(2): 364-70, 2008 Jul 22.
Article
in English
| MEDLINE | ID: mdl-18612309
9.
Juvenile xanthogranuloma and nevus anemicus in the diagnosis of neurofibromatosis type 1.
JAMA Dermatol
; 150(1): 42-6, 2014 Jan.
Article
in English
| MEDLINE | ID: mdl-24258576
10.
Diversity of the clinical presentation of the MMR gene biallelic mutations.
Fam Cancer
; 13(1): 131-5, 2014 Mar.
Article
in English
| MEDLINE | ID: mdl-24068316
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