UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 57

Sortiert nach

Genetics, genomics, and genotype–phenotype correlations of TSC: Insights for clinical practice

American journal of medical genetics. Part C, Seminars in medical genetics, 2018-09, Vol.178 (3), p.281-290

2018

Link zum Volltext

Verfügbarkeit prüfen

The genomic landscape of tuberous sclerosis complex

Nature communications, 2017-06, Vol.8 (1), p.15816-15816, Article 15816

2017

Link zum Volltext

Verfügbarkeit prüfen

Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida

American journal of obstetrics and gynecology, 2009-10, Vol.201 (4), p.394.e1-394.e11

2009

Link zum Volltext

Verfügbarkeit prüfen

ARMC5 controls the degradation of most Pol II subunits, and ARMC5 mutation increases neural tube defect risks in mice and humans

Genome Biology, 2024-01, Vol.25 (1), p.19-19, Article 19

2024

Link zum Volltext

Verfügbarkeit prüfen

Burden of rare deleterious variants in WNT signaling genes among 511 myelomeningocele patients

PloS one, 2020-09, Vol.15 (9), p.e0239083

2020

Link zum Volltext

Verfügbarkeit prüfen

Expression of the neural stem cell markers NG2 and L1 in human angiomyolipoma: are angiomyolipomas neoplasms of stem cells?

Molecular medicine (Cambridge, Mass.), 2007-03, Vol.13 (3-4), p.160-165

2007

Link zum Volltext

Verfügbarkeit prüfen

Genetic variations in the GLUT3 gene associated with myelomeningocele

American journal of obstetrics and gynecology, 2014-09, Vol.211 (3), p.305.e1-305.e8

2014

Link zum Volltext

Verfügbarkeit prüfen

Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations

Human genetics, 2007-05, Vol.121 (3-4), p.389-400

2007

Link zum Volltext

Verfügbarkeit prüfen

Novel single nucleotide polymorphisms in the superoxide dismutase 1 and 2 genes among children with myelomeningocele

American journal of obstetrics and gynecology, 2013-10, Vol.209 (4), p.388.e1-388.e7

2013

Link zum Volltext

Verfügbarkeit prüfen

Introducing Incentives and Reducing Disincentives in Enhancing Deceased Organ Donation and Transplantation

Seminars in nephrology, 2022-07, Vol.42 (4), p.151268-151268, Article 151268

2022

Link zum Volltext

Verfügbarkeit prüfen

Identification of novel candidate risk genes for myelomeningocele within the glucose homeostasis/oxidative stress and folate/one‐carbon metabolism networks

Molecular genetics & genomic medicine, 2020-11, Vol.8 (11), p.e1495-n/a

2020

Link zum Volltext

Verfügbarkeit prüfen

Molecular Genetic Basis of Tuberous Sclerosis Complex: From Bench to Bedside

Journal of child neurology, 2004-09, Vol.19 (9), p.699-709

2004

Link zum Volltext

Verfügbarkeit prüfen

A Subviral Particle Binding Domain on the Rotavirus Nonstructural Glycoprotein NS28

Virology (New York, N.Y.), 1993-06, Vol.194 (2), p.665-673

1993

Link zum Volltext

Verfügbarkeit prüfen

Mild TSC phenotype and non-penetrance associated with a frameshift variant in TSC2 prompts caution in evaluating pathogenicity of frameshift variants

Gene, 2023-08, Vol.877, p.147566-147566, Article 147566

2023

Link zum Volltext

Verfügbarkeit prüfen

Differences between myelomeningocele and myeloschisis lesions in patients undergoing open in-utero spina bifida repair

American journal of obstetrics and gynecology, 2023-01, Vol.228 (1), p.S383-S384

2023

Link zum Volltext

Verfügbarkeit prüfen

eP120: Predicted frameshift variant in TSC2 associated with mild TSC phenotype and non-penetrance

Genetics in medicine, 2022-03, Vol.24 (3), p.S75-S76

2022

Link zum Volltext

Verfügbarkeit prüfen

805 Morphometric analysis of spina bifida (SB) to associate pre-operative severity and clinical outcomes after fetal repair

American journal of obstetrics and gynecology, 2024-01, Vol.230 (1), p.S428-S429

2024

Link zum Volltext

Verfügbarkeit prüfen

Germ-Line Mutational Analysis of the TSC2 Gene in 90 Tuberous-Sclerosis Patients

American journal of human genetics, 1998-02, Vol.62 (2), p.286-294

1998

Link zum Volltext

Verfügbarkeit prüfen

42: Genetic variations in the GLUT3 gene associated with myelomeningocele

American journal of obstetrics and gynecology, 2014, Vol.210 (1), p.S28-S28

2014

Link zum Volltext

Verfügbarkeit prüfen

COL5a1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers—Danlos syndrome type II

Genomics (San Diego, Calif.), 1995-02, Vol.25 (3), p.737-739

1995

Link zum Volltext

Verfügbarkeit prüfen

570: Novel single nucleotide polymorphisms in the superoxide dismutase 1 ( SOD1 ) and 2 ( SOD2 ) genes among patients with non-syndromic myelomeningocele

American journal of obstetrics and gynecology, 2013, Vol.208 (1), p.S244-S244

2013

Link zum Volltext

Verfügbarkeit prüfen

Mix of Medicines

Visual anthropology (Journal), 2011-01, Vol.24 (1-2), p.189-202

Au, Derrick Kit-Sing

2011

Link zum Volltext

Verfügbarkeit prüfen

A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex

Journal of medical genetics, 2001-05, Vol.38 (5), p.347-349

2001

Link zum Volltext

Verfügbarkeit prüfen

Topography of the simian rotavirus nonstructural glycoprotein (NS28) in the endoplasmic reticulum membrane

Virology (New York, N.Y.), 1988-06, Vol.164 (2), p.435-442

1988

Link zum Volltext

Verfügbarkeit prüfen

Epilepsy Risk Prediction Model for Patients With Tuberous Sclerosis Complex

Pediatric neurology, 2020-12, Vol.113, p.46-50

2020

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 57

Suche als RSS-Feed

Aktive Filter

ThemaDevelopmental Biology

ThemaFemale

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(49)
Mit Volltextzugriff
(56)

Publikationsform

Sprache

Englisch
(57)
Japanisch
(6)

Erscheinungsjahr

n.n

Thema

Science & Technology
(31)
Life Sciences & Biomedicine
(27)
Humans
(17)
Genetics & Heredity
(10)
Biological And Medical Sciences
(9)
Animals
(7)
Mutation
(7)
Obstetrics And Gynecology
(7)
Tuberous Sclerosis - Genetics
(7)
Genes
(6)
Myelomeningocele
(6)
Tuberous Sclerosis Complex
(6)
Fundamental And Applied Biological Sciences. Psychology
(5)
Genetics
(5)
Genotype
(4)
Medical Sciences
(4)
Microbiology
(4)
Multidisciplinary Sciences
(4)
Obstetrics & Gynecology
(4)
Pediatrics
(4)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Genetics, genomics, and genotype–phenotype correlations of TSC: Insights for clinical practice

The genomic landscape of tuberous sclerosis complex

Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida

ARMC5 controls the degradation of most Pol II subunits, and ARMC5 mutation increases neural tube defect risks in mice and humans

Burden of rare deleterious variants in WNT signaling genes among 511 myelomeningocele patients

Expression of the neural stem cell markers NG2 and L1 in human angiomyolipoma: are angiomyolipomas neoplasms of stem cells?

Genetic variations in the GLUT3 gene associated with myelomeningocele

Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations

Novel single nucleotide polymorphisms in the superoxide dismutase 1 and 2 genes among children with myelomeningocele

Introducing Incentives and Reducing Disincentives in Enhancing Deceased Organ Donation and Transplantation

Identification of novel candidate risk genes for myelomeningocele within the glucose homeostasis/oxidative stress and folate/one‐carbon metabolism networks

Molecular Genetic Basis of Tuberous Sclerosis Complex: From Bench to Bedside

A Subviral Particle Binding Domain on the Rotavirus Nonstructural Glycoprotein NS28

Mild TSC phenotype and non-penetrance associated with a frameshift variant in TSC2 prompts caution in evaluating pathogenicity of frameshift variants

Differences between myelomeningocele and myeloschisis lesions in patients undergoing open in-utero spina bifida repair

eP120: Predicted frameshift variant in TSC2 associated with mild TSC phenotype and non-penetrance

805 Morphometric analysis of spina bifida (SB) to associate pre-operative severity and clinical outcomes after fetal repair

Germ-Line Mutational Analysis of the TSC2 Gene in 90 Tuberous-Sclerosis Patients

42: Genetic variations in the GLUT3 gene associated with myelomeningocele

COL5a1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers—Danlos syndrome type II

570: Novel single nucleotide polymorphisms in the superoxide dismutase 1 ( SOD1 ) and 2 ( SOD2 ) genes among patients with non-syndromic myelomeningocele

Mix of Medicines

A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex

Topography of the simian rotavirus nonstructural glycoprotein (NS28) in the endoplasmic reticulum membrane

Epilepsy Risk Prediction Model for Patients With Tuberous Sclerosis Complex

Aktive Filter

Suchergebnisse filtern