UB Paderborn / Katalog / Suche / in CDI

Sortiert nach

Einfacher Volltextzugriff von (fast) überall

Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...

Throwing off the keratin chains: a potential therapy for hereditary podocytopathy

Kidney international, 2024-04, Vol.105 (4), p.663-665

Tory, Kálmán

2024

Volltextzugriff (PDF)

The dominant findings of a recessive man: from Mendel’s kid pea to kidney

Pediatric nephrology (Berlin, West), 2024-07, Vol.39 (7), p.2049-2059

Tory, Kálmán

2024

Volltextzugriff (PDF)

Activating HSP72 in Rodent Skeletal Muscle Increases Mitochondrial Number and Oxidative Capacity and Decreases Insulin Resistance

Diabetes (New York, N.Y.), 2014-06, Vol.63 (6), p.1881-1894

2014

Volltextzugriff (PDF)

Identification of incompletely penetrant variants and interallelic interactions in autosomal recessive disorders by a population‐genetic approach

Human mutation, 2021-11, Vol.42 (11), p.1473-1487

2021

Volltextzugriff (PDF)

The mutation‐dependent pathogenicity of NPHS2 p.R229Q: A guide for clinical assessment

Human mutation, 2018-12, Vol.39 (12), p.1854-1860

2018

Volltextzugriff (PDF)

The importance of pseudouridylation: human disorders related to the fifth nucleoside

Biologia futura, 2023-06, Vol.74 (1-2), p.3-15

2023

Volltextzugriff (PDF)

Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome

Nature genetics, 2014-03, Vol.46 (3), p.299-304

2014

Volltextzugriff (PDF)

EPG5 c.1007A > G mutation in a sibling pair with rapidly progressing Vici syndrome

Annals of human genetics, 2020-01, Vol.84 (1), p.80-86

2020

Volltextzugriff (PDF)

Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies

Pediatric nephrology (Berlin, West), 2018-10, Vol.33 (10), p.1713-1721

2018

Volltextzugriff (PDF)

The sub‐basal nerve plexus and central corneal stromal microstructure in subjects with congenital aniridia, using in vivo confocal microscopy

Acta ophthalmologica (Oxford, England), 2024-01, Vol.102 (S279), p.n/a

2024

Volltextzugriff (PDF)

Genetic background of congenital aniridia

Acta ophthalmologica (Oxford, England), 2024-01, Vol.102 (S279), p.n/a

2024

Volltextzugriff (PDF)

QMPSF is sensitive and specific in the detection of NPHP1 heterozygous deletions

Clinical chemistry and laboratory medicine, 2017-06, Vol.55 (6), p.809-816

2017

Volltextzugriff (PDF)

The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals

Human mutation, 2022-12, Vol.43 (12), p.1872-1881

2022

Volltextzugriff (PDF)

Examination of Subbasal Nerve Plexus and Central Corneal Stromal Microstructure in Subjects With Congenital Aniridia, Using in Vivo Confocal Laser Scanning Microscopy

Current eye research, 2024-06, Vol.49 (6), p.582-590

2024

Volltextzugriff (PDF)

A molecular mechanism explaining albuminuria in kidney disease

Nature metabolism, 2020-05, Vol.2 (5), p.461-474

2020

Volltextzugriff (PDF)

Critical Considerations in Genetic Counseling of Patients With the NPHS2 R229Q Variant

American journal of kidney diseases, 2019-04, Vol.73 (4), p.576-576

Tory, Kalman

2019

Volltextzugriff (PDF)

Mutations of NPHP2 and NPHP3 in infantile nephronophthisis

Kidney international, 2009-04, Vol.75 (8), p.839-847

2009

Volltextzugriff (PDF)

Endoplasmic reticulum–retained podocin mutants are massively degraded by the proteasome

The Journal of biological chemistry, 2018-03, Vol.293 (11), p.4122-4133

2018

Volltextzugriff (PDF)

C-terminal oligomerization of podocin mediates interallelic interactions

Biochimica et biophysica acta. Molecular basis of disease, 2018-07, Vol.1864 (7), p.2448-2457

2018

Volltextzugriff (PDF)

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

Nature genetics, 2007-07, Vol.39 (7), p.875-881

2007

Volltextzugriff (PDF)

High NPHP1 and NPHP6 mutation rate in patients with joubert syndrome and nephronophthisis : Potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations

Journal of the American Society of Nephrology, 2007-05, Vol.18 (5), p.1566-1575

2007

Volltextzugriff (PDF)

Selective measurement of α smooth muscle actin: why β-actin can not be used as a housekeeping gene when tissue fibrosis occurs

BMC molecular biology, 2017-04, Vol.18 (1), p.12-12, Article 12

2017

Volltextzugriff (PDF)

Staging of aniridia-associated keratopathy

Orvosi hetilap, 2023-07, Vol.164 (27), p.1063

2023

Volltextzugriff (PDF)

Cardiovascular risk assessment in children with chronic kidney disease

Pediatric nephrology (Berlin, West), 2013-06, Vol.28 (6), p.875-884

2013

Volltextzugriff (PDF)

1 – 25 von 100

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(96)
Mit Volltextzugriff
(76)

Publikationsform

Artikel
(99)
Buchkapitel
(1)

Sprache

Englisch
(95)
Ungarisch
(9)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Throwing off the keratin chains: a potential therapy for hereditary podocytopathy

The dominant findings of a recessive man: from Mendel’s kid pea to kidney

Activating HSP72 in Rodent Skeletal Muscle Increases Mitochondrial Number and Oxidative Capacity and Decreases Insulin Resistance

Identification of incompletely penetrant variants and interallelic interactions in autosomal recessive disorders by a population‐genetic approach

The mutation‐dependent pathogenicity of NPHS2 p.R229Q: A guide for clinical assessment

The importance of pseudouridylation: human disorders related to the fifth nucleoside

Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome

EPG5 c.1007A > G mutation in a sibling pair with rapidly progressing Vici syndrome

Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies

The sub‐basal nerve plexus and central corneal stromal microstructure in subjects with congenital aniridia, using in vivo confocal microscopy

Genetic background of congenital aniridia

QMPSF is sensitive and specific in the detection of NPHP1 heterozygous deletions

Reassuring pregnancy outcomes in women with mild COL4A3-5–related disease (Alport syndrome) and genetic type of disease can aid personalized counseling

The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals

Examination of Subbasal Nerve Plexus and Central Corneal Stromal Microstructure in Subjects With Congenital Aniridia, Using in Vivo Confocal Laser Scanning Microscopy

A molecular mechanism explaining albuminuria in kidney disease

Critical Considerations in Genetic Counseling of Patients With the NPHS2 R229Q Variant

Mutations of NPHP2 and NPHP3 in infantile nephronophthisis

Endoplasmic reticulum–retained podocin mutants are massively degraded by the proteasome

C-terminal oligomerization of podocin mediates interallelic interactions

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

High NPHP1 and NPHP6 mutation rate in patients with joubert syndrome and nephronophthisis : Potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations

Selective measurement of α smooth muscle actin: why β-actin can not be used as a housekeeping gene when tissue fibrosis occurs

Staging of aniridia-associated keratopathy

Cardiovascular risk assessment in children with chronic kidney disease

Suchergebnisse filtern