Detalhe da pesquisa
1.
Making a Genetic Diagnosis in a Level IV Neonatal Intensive Care Unit Population: Who, When, How, and at What Cost?
J Pediatr
; 213: 211-217.e4, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31255390
2.
Neonatal Lung Disease Associated with TBX4 Mutations.
J Pediatr
; 206: 286-292.e1, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30413314
3.
C9orf72 Repeat Expansion Frequency among Patients with Huntington Disease Genetic Testing.
Neurodegener Dis
; 18(5-6): 239-253, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30336474
4.
Does parent of origin matter? Methylation studies should be performed on patients with multiple copies of the Prader-Willi/Angelman syndrome critical region.
Am J Med Genet A
; 164A(10): 2514-20, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24975781
5.
Hb Memphis [HBA2: c.70G>C (or HBA1)] in a Turkish child: a case report and comparison to Hb Q-Thailand (HBA1: c.223G>C).
Hemoglobin
; 38(2): 137-41, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24432778
6.
Hb Grand Junction (HBB: c.348_349delinsG; p.His117IlefsX42): a new hyperunstable hemoglobin variant.
Hemoglobin
; 38(1): 8-12, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24432801
7.
Implementation of CYP2D6-guided opioid therapy at Cincinnati Children's Hospital Medical Center.
Am J Health Syst Pharm
; 80(13): 852-859, 2023 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36715063
8.
Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center.
J Autism Dev Disord
; 52(11): 4828-4842, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34773222
9.
Clinical diagnostic testing for the cytogenetic and molecular causes of male infertility: the Mayo Clinic experience.
J Assist Reprod Genet
; 28(11): 1091-8, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21912980
10.
Characterization of Reference Materials with an Association for Molecular Pathology Pharmacogenetics Working Group Tier 2 Status: CYP2C9, CYP2C19, VKORC1, CYP2C Cluster Variant, and GGCX: A GeT-RM Collaborative Project.
J Mol Diagn
; 23(8): 952-958, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34020041
11.
Partial hexasomy for the Prader-Willi-Angelman syndrome critical region due to a maternally inherited large supernumerary marker chromosome.
Am J Med Genet A
; 152A(8): 2034-8, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20602489
12.
Central Diabetes Insipidus in a Patient With NFKB2 Mutation: Expanding the Endocrine Phenotype in DAVID Syndrome.
J Clin Endocrinol Metab
; 104(9): 4051-4057, 2019 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31150062
13.
Patients with mosaic methylation patterns of the Prader-Willi/Angelman Syndrome critical region exhibit AS-like phenotypes with some PWS features.
Mol Cytogenet
; 9: 26, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27006693
14.
A Suggested Molecular Pathology Curriculum for Residents: A Report of the Association for Molecular Pathology.
J Mol Diagn
; 18(2): 153-62, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26857063
15.
Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy.
Neurology
; 86(19): 1762-71, 2016 05 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27164712
16.
Development of real-time PCR assays for the quantitative detection of Epstein-Barr virus and cytomegalovirus, comparison of TaqMan probes, and molecular beacons.
J Mol Diagn
; 5(1): 15-20, 2003 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-12552075
17.
Liver transplant-associated graft-versus-host disease.
Transplantation
; 75(1): 118-26, 2003 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-12544883
18.
Development and clinical implementation of a combination deletion PCR and multiplex ligation-dependent probe amplification assay for detecting deletions involving the human α-globin gene cluster.
J Mol Diagn
; 13(5): 549-57, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21708285
19.
Utility of microsatellite analysis in evaluation of pregnancies with placental mesenchymal dysplasia.
Prenat Diagn
; 27(13): 1238-44, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17994614
20.
Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis.
J Am Soc Nephrol
; 18(6): 1905-14, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17460142