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1.
A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity.
Am J Med Genet B Neuropsychiatr Genet;
171B(2): 290-9, 2016 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-26620927
2.
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications.
Cytogenet Genome Res;
147(1): 10-6, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-26658296
3.
Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression.
Hum Mutat;
34(8): 1160-71, 2013 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-23649844
4.
Bilaterally cleft lip and bilateral thumb polydactyly with triphalangeal component in a patient with two de novo deletions of HSA 4q32 and 4q34 involving PDGFC, GRIA2, and FBXO8 genes.
Am J Med Genet A;
161A(10): 2656-62, 2013 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-24038848
5.
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q.
Eur J Med Genet;
60(4): 224-227, 2017 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-28159702
6.
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH.
Mol Cytogenet;
7(1): 82, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-25435912
7.
790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism.
Eur J Med Genet;
55(3): 222-4, 2012 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-22365944
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