UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 70

Sortiert nach

CGG Repeats in the 5'UTR of FMR1 RNA Regulate Translation of Other RNAs Localized in the Same RNA Granules

PloS one, 2016-12, Vol.11 (12), p.e0168204

2016

Link zum Volltext

Verfügbarkeit prüfen

The Impact of the CFTR Gene Discovery on Cystic Fibrosis Diagnosis, Counseling, and Preventive Therapy

Genes, 2020-04, Vol.11 (4), p.401

2020

Link zum Volltext

Verfügbarkeit prüfen

Translating Molecular Technologies into Routine Newborn Screening Practice

International journal of neonatal screening, 2020-10, Vol.6 (4), p.80

2020

Link zum Volltext

Verfügbarkeit prüfen

Newborn screening for spinal muscular atrophy: The Wisconsin first year experience

Neuromuscular disorders : NMD, 2022-02, Vol.32 (2), p.135-141

2022

Link zum Volltext

Verfügbarkeit prüfen

Newborn Screening for Severe Combined Immunodeficiency; The Wisconsin Experience (2008–2011)

Journal of clinical immunology, 2012-02, Vol.32 (1), p.82-88

2012

Link zum Volltext

Verfügbarkeit prüfen

Development of a routine newborn screening protocol for severe combined immunodeficiency

Journal of allergy and clinical immunology, 2009-09, Vol.124 (3), p.522-527

2009

Link zum Volltext

Verfügbarkeit prüfen

FMR1 CGG expansions: Prevalence and sex ratios

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2013-07, Vol.162B (5), p.466-473

2013

Link zum Volltext

Verfügbarkeit prüfen

Newborn Screening for Severe Combined Immunodeficiency: Do Preterm Infants Require Special Consideration?

International journal of neonatal screening, 2021-07, Vol.7 (3), p.40

2021

Link zum Volltext

Verfügbarkeit prüfen

Correction: Furnier et al. Translating Molecular Technologies into Routine Newborn Screening Practice. Int. J. Neonatal Screen. 2020, 6, 80

International journal of neonatal screening, 2021-10, Vol.7 (4), p.66

2021

Link zum Volltext

Verfügbarkeit prüfen

Newborn Screen for X-Linked Adrenoleukodystrophy Using Flow Injection Tandem Mass Spectrometry in Negative Ion Mode

International journal of neonatal screening, 2022-04, Vol.8 (2), p.27

2022

Link zum Volltext

Verfügbarkeit prüfen

Missed Cystic Fibrosis Newborn Screening Cases due to Immunoreactive Trypsinogen Levels below Program Cutoffs: A National Survey of Risk Factors

International journal of neonatal screening, 2022-10, Vol.8 (4), p.58

2022

Link zum Volltext

Verfügbarkeit prüfen

Low-normal FMR1 CGG repeat length: phenotypic associations

Frontiers in genetics, 2014-09, Vol.5, p.309-309

2014

Link zum Volltext

Verfügbarkeit prüfen

Health Profiles of Mosaic Versus Non-mosaic FMR1 Premutation Carrier Mothers of Children With Fragile X Syndrome

Frontiers in genetics, 2018-05, Vol.9, p.173-173

2018

Link zum Volltext

Verfügbarkeit prüfen

Newborn Screening for Severe Combined Immunodeficiency Using the Multiple of the Median Values of T-Cell Receptor Excision Circles

International journal of neonatal screening, 2021-07, Vol.7 (3), p.43

2021

Link zum Volltext

Verfügbarkeit prüfen

Interpreting low T-cell receptor excision circles in newborns with DiGeorge anomaly: Importance of assessing naive T-cell markers

Journal of allergy and clinical immunology, 2011-12, Vol.128 (6), p.1375-1376

2011

Link zum Volltext

Verfügbarkeit prüfen

Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin

Molecular genetics and metabolism, 2013-09, Vol.110 (1-2), p.111-115

2013

Link zum Volltext

Verfügbarkeit prüfen

Increased Congenital Hypothyroidism Detection in Preterm Infants with Serial Newborn Screening

The Journal of pediatrics, 2019-04, Vol.207, p.220-225

2019

Link zum Volltext

Verfügbarkeit prüfen

Thyroid-Stimulating Hormone Reference Ranges for Preterm Infants

Pediatrics (Evanston), 2019-08, Vol.144 (2)

2019

Link zum Volltext

Verfügbarkeit prüfen

Thyroid Hormone Function in Small for Gestational Age Term Newborns

The Journal of pediatrics, 2021-11, Vol.238, p.181-186.e3

2021

Link zum Volltext

Verfügbarkeit prüfen

Statewide newborn screening for severe T-cell lymphopenia

JAMA : the journal of the American Medical Association, 2009-12, Vol.302 (22), p.2465

2009

Link zum Volltext

Verfügbarkeit prüfen

Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study

Genetics in medicine, 2016-03, Vol.18 (3), p.231-238

2016

Link zum Volltext

Verfügbarkeit prüfen

Thyroid-stimulating hormone reference ranges for moderate-to-late preterm infants

Journal of perinatology, 2021-11, Vol.41 (11), p.2664-2667

2021

Link zum Volltext

Verfügbarkeit prüfen

Carrier frequency estimation of Zellweger spectrum disorder using ExAC database and bioinformatics tools

Genetics in medicine, 2019-09, Vol.21 (9), p.1969-1976

2019

Link zum Volltext

Verfügbarkeit prüfen

Development of an assay to simultaneously measure orotic acid, amino acids, and acylcarnitines in dried blood spots

Clinica chimica acta, 2014-09, Vol.436, p.149-154

2014

Link zum Volltext

Verfügbarkeit prüfen

Optimal DNA tier for the IRT/DNA algorithm determined by CFTR mutation results over 14 years of newborn screening

Journal of cystic fibrosis, 2011-07, Vol.10 (4), p.278-281

2011

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 70

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(69)
Mit Volltextzugriff
(65)

Publikationsform

Artikel
(69)
Tagungsberichte
(1)

Sprache

Englisch
(70)
Japanisch
(18)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

CGG Repeats in the 5'UTR of FMR1 RNA Regulate Translation of Other RNAs Localized in the Same RNA Granules

The Impact of the CFTR Gene Discovery on Cystic Fibrosis Diagnosis, Counseling, and Preventive Therapy

Translating Molecular Technologies into Routine Newborn Screening Practice

Newborn screening for spinal muscular atrophy: The Wisconsin first year experience

Newborn Screening for Severe Combined Immunodeficiency; The Wisconsin Experience (2008–2011)

Development of a routine newborn screening protocol for severe combined immunodeficiency

FMR1 CGG expansions: Prevalence and sex ratios

Newborn Screening for Severe Combined Immunodeficiency: Do Preterm Infants Require Special Consideration?

Correction: Furnier et al. Translating Molecular Technologies into Routine Newborn Screening Practice. Int. J. Neonatal Screen. 2020, 6, 80

Newborn Screen for X-Linked Adrenoleukodystrophy Using Flow Injection Tandem Mass Spectrometry in Negative Ion Mode

Missed Cystic Fibrosis Newborn Screening Cases due to Immunoreactive Trypsinogen Levels below Program Cutoffs: A National Survey of Risk Factors

Low-normal FMR1 CGG repeat length: phenotypic associations

Health Profiles of Mosaic Versus Non-mosaic FMR1 Premutation Carrier Mothers of Children With Fragile X Syndrome

Newborn Screening for Severe Combined Immunodeficiency Using the Multiple of the Median Values of T-Cell Receptor Excision Circles

Interpreting low T-cell receptor excision circles in newborns with DiGeorge anomaly: Importance of assessing naive T-cell markers

Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin

Increased Congenital Hypothyroidism Detection in Preterm Infants with Serial Newborn Screening

Thyroid-Stimulating Hormone Reference Ranges for Preterm Infants

Thyroid Hormone Function in Small for Gestational Age Term Newborns

Statewide newborn screening for severe T-cell lymphopenia

Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study

Thyroid-stimulating hormone reference ranges for moderate-to-late preterm infants

Carrier frequency estimation of Zellweger spectrum disorder using ExAC database and bioinformatics tools

Development of an assay to simultaneously measure orotic acid, amino acids, and acylcarnitines in dried blood spots

Optimal DNA tier for the IRT/DNA algorithm determined by CFTR mutation results over 14 years of newborn screening

Suchergebnisse filtern