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1.
Perspectives of genetic counseling supervisors regarding genetic counseling students' attainment of practice-based competencies in clinical care through remote supervision.
J Genet Couns
; 33(1): 86-102, 2024 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-38339846
2.
The 2019 US medical genetics workforce: a focus on clinical genetics.
Genet Med
; 23(8): 1458-1464, 2021 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-33941882
3.
Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Differences in Time to Evaluation and Symptoms at Presentation.
J Pediatr
; 180: 200-205.e8, 2017 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27776753
4.
An Exploration of Genetic Test Utilization, Genetic Counseling, and Consanguinity within the Inborn Errors of Metabolism Collaborative (IBEMC).
J Genet Couns
; 26(6): 1238-1243, 2017 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-28451876
5.
Inborn Errors of Metabolism Collaborative: large-scale collection of data on long-term follow-up for newborn-screened conditions.
Genet Med
; 18(12): 1276-1281, 2016 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-27195819
6.
Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System.
Mol Genet Metab
; 118(1): 15-20, 2016 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-27033733
7.
221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.
Mol Genet Metab
; 119(1-2): 75-82, 2016 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-27477829
8.
Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.
Mol Genet Metab
; 118(4): 272-81, 2016 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-27209629
9.
Homozygous loss of mouse tetraspanin CD82 enhances integrin αIIbß3 expression and clot retraction in platelets.
Exp Cell Res
; 339(2): 261-9, 2015 Dec 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-26562164
10.
Host thiopurine methyltransferase status affects mercaptopurine antileukemic effectiveness in a murine model.
Pharmacogenet Genomics
; 24(5): 263-71, 2014 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-24710003
11.
Using Long-Term Follow-Up Data to Classify Genetic Variants in Newborn Screened Conditions.
Front Genet
; 13: 859837, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35692825
12.
Outcomes and genotype correlations in patients with mitochondrial trifunctional protein or isolated long chain 3-hydroxyacyl-CoA dehydrogenase deficiency enrolled in the IBEM-IS database.
Mol Genet Metab Rep
; 32: 100884, 2022 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-35677112
13.
Inhibition of integrin-mediated crosstalk with epidermal growth factor receptor/Erk or Src signaling pathways in autophagic prostate epithelial cells induces caspase-independent death.
Mol Biol Cell
; 18(7): 2481-90, 2007 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-17475774
14.
Differential effects of targeted disruption of thiopurine methyltransferase on mercaptopurine and thioguanine pharmacodynamics.
Cancer Res
; 67(10): 4965-72, 2007 May 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-17510427
15.
Pharmacokinetics and pharmacodynamics of oral etoposide in children with relapsed or refractory acute lymphoblastic leukemia.
J Clin Oncol
; 21(7): 1340-6, 2003 Apr 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-12663724
16.
Etoposide induces chimeric Mll gene fusions.
FASEB J
; 18(1): 173-5, 2004 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-14630694
17.
Genetic polymorphisms in CYP3A5, CYP3A4 and NQO1 in children who developed therapy-related myeloid malignancies.
Pharmacogenetics
; 12(8): 605-11, 2002 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-12439220
18.
Transient induction of ING4 by Myc drives prostate epithelial cell differentiation and its disruption drives prostate tumorigenesis.
Cancer Res
; 74(12): 3357-68, 2014 Jun 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-24762396
19.
Lymphoid gene expression as a predictor of risk of secondary brain tumors.
Genes Chromosomes Cancer
; 42(2): 107-16, 2005 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-15543619
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