Detalhe da pesquisa
1.
Thyroid Hormone Function in Small for Gestational Age Term Newborns.
J Pediatr
; 238: 181-186.e3, 2021 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-34214586
2.
Carrier frequency estimation of Zellweger spectrum disorder using ExAC database and bioinformatics tools.
Genet Med
; 21(9): 1969-1976, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-30846882
3.
Increased Congenital Hypothyroidism Detection in Preterm Infants with Serial Newborn Screening.
J Pediatr
; 207: 220-225, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30579585
4.
Is Low FMR1 CGG Repeat Length in Males Correlated with Family History of BRCA-Associated Cancers? An Exploratory Analysis of Medical Records.
J Genet Couns
; 26(6): 1401-1410, 2017 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-28667565
5.
Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study.
Genet Med
; 18(3): 231-8, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-25674778
6.
Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin.
Mol Genet Metab
; 110(1-2): 111-5, 2013.
Artigo
Inglês
| MEDLINE | ID: mdl-23712021
7.
Novel mutation in TP63 associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopenia.
Am J Med Genet A
; 161A(6): 1432-5, 2013 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-23613309
8.
FMR1 CGG expansions: prevalence and sex ratios.
Am J Med Genet B Neuropsychiatr Genet
; 162B(5): 466-73, 2013 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-23740716
9.
Newborn screening for severe combined immunodeficiency; the Wisconsin experience (2008-2011).
J Clin Immunol
; 32(1): 82-8, 2012 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-22068910
10.
Newborn Screen for X-Linked Adrenoleukodystrophy Using Flow Injection Tandem Mass Spectrometry in Negative Ion Mode.
Int J Neonatal Screen
; 8(2)2022 Apr 14.
Artigo
Inglês
| MEDLINE | ID: mdl-35466198
11.
Newborn screening for spinal muscular atrophy: The Wisconsin first year experience.
Neuromuscul Disord
; 32(2): 135-141, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-35120759
12.
Missed Cystic Fibrosis Newborn Screening Cases due to Immunoreactive Trypsinogen Levels below Program Cutoffs: A National Survey of Risk Factors.
Int J Neonatal Screen
; 8(4)2022 Oct 27.
Artigo
Inglês
| MEDLINE | ID: mdl-36412584
13.
Cause of death in neonates with inconclusive or abnormal T-cell receptor excision circle assays on newborn screening.
J Clin Immunol
; 31(6): 962-7, 2011 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-21956495
14.
Correction: Furnier et al. Translating Molecular Technologies into Routine Newborn Screening Practice. Int. J. Neonatal Screen. 2020, 6, 80.
Int J Neonatal Screen
; 7(4)2021 Oct 22.
Artigo
Inglês
| MEDLINE | ID: mdl-34698052
15.
Newborn Screening for Severe Combined Immunodeficiency: Do Preterm Infants Require Special Consideration?
Int J Neonatal Screen
; 7(3)2021 Jul 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34287233
16.
Newborn Screening for Severe Combined Immunodeficiency Using the Multiple of the Median Values of T-Cell Receptor Excision Circles.
Int J Neonatal Screen
; 7(3)2021 Jul 12.
Artigo
Inglês
| MEDLINE | ID: mdl-34287245
17.
Thyroid-stimulating hormone reference ranges for moderate-to-late preterm infants.
J Perinatol
; 41(11): 2664-2667, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-33279944
18.
Development of a routine newborn screening protocol for severe combined immunodeficiency.
J Allergy Clin Immunol
; 124(3): 522-7, 2009 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-19482345
19.
Translating Molecular Technologies into Routine Newborn Screening Practice.
Int J Neonatal Screen
; 6(4)2020 Oct 15.
Artigo
Inglês
| MEDLINE | ID: mdl-33124618
20.
The Impact of the CFTR Gene Discovery on Cystic Fibrosis Diagnosis, Counseling, and Preventive Therapy.
Genes (Basel)
; 11(4)2020 04 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32276344