Detalhe da pesquisa
1.
OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome.
Am J Hum Genet
; 102(2): 278-295, 2018 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29395074
2.
Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders.
Am J Hum Genet
; 98(1): 90-101, 2016 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26686765
3.
Severe rhizomelic shortening in a child with a complex duplication/deletion rearrangement of chromosome X.
Am J Med Genet A
; 176(2): 450-454, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29271572
4.
Maternal uniparental disomy for chromosome 6 in a patient with IUGR, ambiguous genitalia, and persistent mullerian structures.
Am J Med Genet A
; 170(12): 3227-3230, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27500688
5.
2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features.
Am J Med Genet A
; 155A(2): 424-9, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21271666
6.
Co-occurrence of 16p13.11 microdeletion and ring chromosome 20 syndrome.
Neurol Genet
; 2(1): e43, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27066580
7.
Prioritizing Clinically Relevant Copy Number Variation from Genetic Interactions and Gene Function Data.
PLoS One
; 10(10): e0139656, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26437450
8.
Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and Hypertriglyceridemia.
Cell Mol Gastroenterol Hepatol
; 1(4): 381-394.e7, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26207260
9.
BRAF mutation and CDKN2A deletion define a clinically distinct subgroup of childhood secondary high-grade glioma.
J Clin Oncol
; 33(9): 1015-22, 2015 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-25667294
10.
Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C.
BMC Med Genomics
; 6: 1, 2013 Jan 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-23356856