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...

Novel NARS2 variant causing leigh syndrome with normal lactate levels

Human genome variation, 2022-05, Vol.9 (1), p.12-12, Article 12

2022

Volltextzugriff (PDF)

Relapsing 6q24-related transient neonatal diabetes mellitus with insulin resistance : A case report

Clinical Pediatric Endocrinology, 2020-10, Vol.29 (4), p.179-182

2020

Volltextzugriff (PDF)

Domain-specific Mutations of a Transforming Growth Factor (TGF)-β1 Latency-associated Peptide Cause Camurati-Engelmann Disease Because of the Formation of a Constitutively Active Form of TGF-β1

The Journal of biological chemistry, 2001-04, Vol.276 (15), p.11469-11472

2001

Volltextzugriff (PDF)

Wide Spectrum of Cardiac Phenotype in Myofibrillar Myopathy Associated With a Bcl-2-Associated Athanogene 3 Mutation: A Case Report and Literature Review

Journal of clinical neuromuscular disease, 2022-09, Vol.24 (1), p.49-54

2022

Volltextzugriff (PDF)

Comprehensive screening of CREB-binding protein gene mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatography

Congenital anomalies, 2005-12, Vol.45 (4), p.125-131

2005

Volltextzugriff (PDF)

Neonatal screening

Nihon rinshō, 2005-12, Vol.63 Suppl 12, p.104

Makita, Yoshio

2005

Volltextzugriff (PDF)

ATP1A3 potentially causes hereditary spastic paraplegia: A case report of a patient presenting with lower limb spasticity and intellectual disability

Brain and Development Case Reports, 2024-06, Vol.2 (2), p.100016, Article 100016

2024

Volltextzugriff (PDF)

Passive Radio Imaging of Hybrid Radar System for Security Inspections

2020 17th European Radar Conference (EuRAD), 2021, p.378-381

2021

Volltextzugriff (PDF)

Numerical Simulation and Measurement of Bistatic Radar Cross Section in75 GHz

2021 International Conference on Electromagnetics in Advanced Applications (ICEAA), 2021, p.299-300

2021

Volltextzugriff (PDF)

Study on Multistatic Primary Surveillance Radar Using DTTB Signal Delays

2018 International Conference on Radar (RADAR), 2018, p.1-4

2018

Volltextzugriff (PDF)

P-16 POLYMORPHISM IN PATERNAL ALLELE OF IGF2 GENE ASSOCIATED WITH FETAL AND PLACENTAL GROWTH IN JAPANESE

Growth hormone & IGF research, 2006-11, Vol.16, p.S43-S43

2006

Volltextzugriff (PDF)

Relationship between receiving antenna pattern and aircraft position using DTTB signal delays

2017 IEEE Conference on Antenna Measurements & Applications (CAMA), 2017, p.164-166

2017

Volltextzugriff (PDF)

Clinical characteristics of muscle cramps in hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome associated with a novel COL4A1 pathogenic variant: A family case study

Brain & development, 2023, Vol.45 (7), p.390-394

2023

Volltextzugriff (PDF)

Methylenetetrahydrofolate reductase genotype, vitamin B12, and folate influence plasma homocysteine in hemodialysis patients

American journal of kidney diseases, 2002-05, Vol.39 (5), p.1032-1039

2002

Volltextzugriff (PDF)

Domain-specific Mutations of a Transforming Growth Factor (TGF)-Î²1 Latency-associated Peptide Cause Camurati-Engelmann Disease Because of the Formation of a Constitutively Active Form of TGF-Î²1

The Journal of biological chemistry, 2001-04, Vol.276 (15), p.11469

2001

Volltextzugriff (PDF)

Diurnal Rhythms of Luteinizing Hormone, Follicle-Stimulating Hormone, Testosterone, and Estradiol Secretion before the Onset of Female Puberty in Short Children 1

The journal of clinical endocrinology and metabolism, 2000-03, Vol.85 (3), p.1074-1080

2000

Volltextzugriff (PDF)

Diurnal Rhythms of Luteinizing Hormone, Follicle-Stimulating Hormone, Testosterone, and Estradiol Secretion before the Onset of Female Puberty in Short Children1

The journal of clinical endocrinology and metabolism, 2000-03, Vol.85 (3), p.1074-1080

2000

Volltextzugriff (PDF)

Diurnal Rhythms of Luteinizing Hormone, Follicle-Stimulating Hormone, and Testosterone Secretion before the Onset of Male Puberty1

The journal of clinical endocrinology and metabolism, 1999-01, Vol.84 (1), p.29-37

1999

Volltextzugriff (PDF)

Relapsing 6q24-related transient neonatal diabetes mellitus with insulin resistance: A case report

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology, 2020, Vol.29 (4), p.179-182

2020

Volltextzugriff (PDF)

Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I

Human genome variation, 2019, Vol.6, p.8-8

2019

Volltextzugriff (PDF)

Genitopatellar syndrome: the first reported case in Japan

Human genome variation, 2018, Vol.5, p.8-8

2018

Volltextzugriff (PDF)

Case Report: A Rare Case of Esophagogastric Junctional Squamous Cell Carcinoma After the Successful Treatment of Neuroendocrine Carcinoma: Clonal Tumor Evolution Revealed by Genetic Analysis

Frontiers in genetics, 2021, Vol.12, p.608324-608324

2021

Volltextzugriff (PDF)

Heterozygous deletion at 14q22.1-q22.3 including the BMP4 gene in a patient with psychomotor retardation, congenital corneal opacity and feet polysyndactyly

American Journal of Medical Genetics Part A, 2008, Vol.146A (22), p.2905-2910

2008

Volltextzugriff (PDF)

The CASK gene harbored in a deletion detected by array-CGH as a potential candidate for a gene causative of X-linked dominant mental retardation

American Journal of Medical Genetics Part A, 2008, Vol.146A (16), p.2145-2151

2008

Volltextzugriff (PDF)

GRIN lenses for high efficiency coupling of laser diodes to single mode fiber

Fiber and integrated optics, 1988-01, Vol.7 (1), p.27-33

1988

Volltextzugriff (PDF)

1 – 25 von 87

Suche als RSS-Feed

Aktive Filter

ThemaLife Sciences & Biomedicine

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(51)
Mit Volltextzugriff
(69)

Publikationsform

Sprache

Englisch
(69)
Japanisch
(39)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Novel NARS2 variant causing leigh syndrome with normal lactate levels

Relapsing 6q24-related transient neonatal diabetes mellitus with insulin resistance : A case report

Domain-specific Mutations of a Transforming Growth Factor (TGF)-β1 Latency-associated Peptide Cause Camurati-Engelmann Disease Because of the Formation of a Constitutively Active Form of TGF-β1

Wide Spectrum of Cardiac Phenotype in Myofibrillar Myopathy Associated With a Bcl-2-Associated Athanogene 3 Mutation: A Case Report and Literature Review

Comprehensive screening of CREB-binding protein gene mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatography

Neonatal screening

ATP1A3 potentially causes hereditary spastic paraplegia: A case report of a patient presenting with lower limb spasticity and intellectual disability

Passive Radio Imaging of Hybrid Radar System for Security Inspections

Numerical Simulation and Measurement of Bistatic Radar Cross Section in75 GHz

Study on Multistatic Primary Surveillance Radar Using DTTB Signal Delays

P-16 POLYMORPHISM IN PATERNAL ALLELE OF IGF2 GENE ASSOCIATED WITH FETAL AND PLACENTAL GROWTH IN JAPANESE

Relationship between receiving antenna pattern and aircraft position using DTTB signal delays

Clinical characteristics of muscle cramps in hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome associated with a novel COL4A1 pathogenic variant: A family case study

Methylenetetrahydrofolate reductase genotype, vitamin B12, and folate influence plasma homocysteine in hemodialysis patients

Domain-specific Mutations of a Transforming Growth Factor (TGF)-Î²1 Latency-associated Peptide Cause Camurati-Engelmann Disease Because of the Formation of a Constitutively Active Form of TGF-Î²1

Diurnal Rhythms of Luteinizing Hormone, Follicle-Stimulating Hormone, Testosterone, and Estradiol Secretion before the Onset of Female Puberty in Short Children 1

Diurnal Rhythms of Luteinizing Hormone, Follicle-Stimulating Hormone, Testosterone, and Estradiol Secretion before the Onset of Female Puberty in Short Children1

Diurnal Rhythms of Luteinizing Hormone, Follicle-Stimulating Hormone, and Testosterone Secretion before the Onset of Male Puberty1

Relapsing 6q24-related transient neonatal diabetes mellitus with insulin resistance: A case report

Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I

Genitopatellar syndrome: the first reported case in Japan

Case Report: A Rare Case of Esophagogastric Junctional Squamous Cell Carcinoma After the Successful Treatment of Neuroendocrine Carcinoma: Clonal Tumor Evolution Revealed by Genetic Analysis

Heterozygous deletion at 14q22.1-q22.3 including the BMP4 gene in a patient with psychomotor retardation, congenital corneal opacity and feet polysyndactyly

The CASK gene harbored in a deletion detected by array-CGH as a potential candidate for a gene causative of X-linked dominant mental retardation

GRIN lenses for high efficiency coupling of laser diodes to single mode fiber

Aktive Filter

Suchergebnisse filtern