Detalhe da pesquisa
1.
A novel de novo intragenic duplication in FBN1 associated with early-onset Marfan syndrome in a 16-month-old: A case report and review of the literature.
Am J Med Genet A
; 194(2): 368-373, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37840436
2.
Metabolic Emergency in Flight.
Air Med J
; 41(1): 141-146, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35248334
3.
How a baby with classic galactosemia was nearly missed: When the test succeeds but system fails.
Am J Med Genet A
; 182(7): 1750-1753, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32275121
4.
The variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes?
Am J Med Genet A
; 182(9): 2058-2067, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32686290
5.
The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer.
PLoS Genet
; 12(5): e1006039, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27195699
6.
Risk of hepatic neoplasms in Wolf-Hirschhorn syndrome (4p-): Four new cases and review of the literature.
Am J Med Genet A
; 176(11): 2389-2394, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30289612
7.
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
Am J Med Genet A
; 176(4): 925-935, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29436146
8.
Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf-Hirschhorn syndrome.
J Med Genet
; 53(4): 256-63, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26747863
9.
Next generation sequencing in endocrine practice.
Mol Genet Metab
; 115(2-3): 61-71, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25958132
10.
Biochemical abnormalities in Pearson syndrome.
Am J Med Genet A
; 167A(3): 621-8, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25691415
11.
Distal Xq28 microdeletions: clarification of the spectrum of contiguous gene deletions involving ABCD1, BCAP31, and SLC6A8 with a new case and review of the literature.
Am J Med Genet A
; 164A(10): 2613-7, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25044748
12.
Academia, advocacy, and industry: a collaborative method for clinical research advancement.
Am J Med Genet A
; 164A(7): 1619-21, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24700599
13.
Phenotype of a patient with contiguous deletion of TBX5 and TBX3: expanding the disease spectrum.
Am J Med Genet A
; 164A(5): 1304-9, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24664963
14.
Recurrent super-refractory status epilepticus and stroke like episode in a patient with Behr syndrome secondary to biallelic variants in OPA1 gene.
Epilepsy Behav Rep
; 25: 100652, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38369985
15.
Iowa Newborn Screening Program Experience with Hemoglobinopathy Screening over the Last Two Decades and Its Increasing Global Relevance.
Int J Neonatal Screen
; 10(1)2024 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38535125
16.
Transaminases Provide Key Chiral Building Blocks for the Synthesis of Selective M1/M4 Agonists.
ACS Med Chem Lett
; 14(12): 1692-1699, 2023 Dec 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38116445
17.
Stability of DNA containing a structural water mimic in an A-T rich sequence.
J Am Chem Soc
; 133(6): 1766-8, 2011 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-21244084
18.
Preparation of the 2'-deoxynucleosides of 2,6-diaminopurine and isoguanine by direct glycosylation.
J Org Chem
; 75(5): 1360-5, 2010 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-20146451
19.
Otospondylomegaepiphyseal Dysplasia: A Case Report of Clinical and Radiographic Findings.
JBJS Case Connect
; 10(4): e20.00140, 2020 10 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-33512935
20.
Structure-Based Design and Preclinical Characterization of Selective and Orally Bioavailable Factor XIa Inhibitors: Demonstrating the Power of an Integrated S1 Protease Family Approach.
J Med Chem
; 63(15): 8088-8113, 2020 08 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-32551603