Detalhe da pesquisa
1.
GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.
Am J Hum Genet
; 104(1): 35-44, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30554721
2.
Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR.
Neurogenetics
; 22(1): 53-64, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33415588
3.
Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion.
Am J Med Genet A
; 170(3): 559-64, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26572961
4.
Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma.
Am J Med Genet A
; 170(12): 3197-3206, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27589201
5.
Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome.
Am J Med Genet A
; 167A(2): 271-81, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25394726
6.
The Intestinal Tract Brush Border in Young Children Uniformly Expresses Guanylate Cyclase C.
Appl Immunohistochem Mol Morphol
; 31(3): 154-162, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36735491
7.
Molecular Genetic Testing for Kidney Disorders During the COVID-19 Pandemic.
Dela J Public Health
; 7(5): 24-27, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-35619972
8.
The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects.
Eur J Hum Genet
; 28(11): 1548-1554, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32499600
9.
Cytotoxicity of Zardaverine in Embryonal Rhabdomyosarcoma from a Costello Syndrome Patient.
Front Oncol
; 7: 42, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28421158
10.
Key Considerations for Selecting a Genomic Decision Support Platform for Implementing Pharmacogenomics.
Clin Pharmacol Ther
; 110(3): 555-558, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34254671
11.
An integrated approach for analyzing clinical genomic variant data from next-generation sequencing.
J Biomol Tech
; 26(1): 19-28, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25649353