UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 680

Sortiert nach

Deafness-family matters

European journal of human genetics : EJHG, 2022-01, Vol.30 (1), p.5-6

Roux, Anne-Françoise

2022

Volltextzugriff (PDF)

MobiDetails: online DNA variants interpretation

European journal of human genetics : EJHG, 2021-02, Vol.29 (2), p.356-360

2021

Volltextzugriff (PDF)

CHM mutation spectrum and disease: An update at the time of human therapeutic trials

Human mutation, 2021-04, Vol.42 (4), p.323-341

2021

Volltextzugriff (PDF)

The CYSMA web server: An example of integrative tool for in silico analysis of missense variants identified in Mendelian disorders

Human mutation, 2020-02, Vol.41 (2), p.375-386

2020

Volltextzugriff (PDF)

Gut and Urinary Microbiota in Cats with Kidney Stones

Microorganisms (Basel), 2024-06, Vol.12 (6), p.1098

2024

Volltextzugriff (PDF)

Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses

Human mutation, 2019-01, Vol.40 (1), p.31-35

2019

Volltextzugriff (PDF)

Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations

Human mutation, 2016-02, Vol.37 (2), p.184-193

2016

Volltextzugriff (PDF)

Genome Editing in Patient iPSCs Corrects the Most Prevalent USH2A Mutations and Reveals Intriguing Mutant mRNA Expression Profiles

Molecular therapy. Methods & clinical development, 2020-06, Vol.17, p.156-173

2020

Volltextzugriff (PDF)

Stuttering Priapism in a Dog—First Report

Veterinary sciences, 2022-10, Vol.9 (10), p.518

2022

Volltextzugriff (PDF)

Evaluating the Transition from Targeted to Exome Sequencing: A Guide for Clinical Laboratories

International journal of molecular sciences, 2023-04, Vol.24 (8), p.7330

2023

Volltextzugriff (PDF)

Generation of a human iPSC line, INMi005-A, from a patient with non-syndromic USH2A-associated retinitis pigmentosa

Stem cell research, 2022-04, Vol.60, p.102738-102738, Article 102738

2022

Volltextzugriff (PDF)

Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing loss

European journal of human genetics : EJHG, 2022-01, Vol.30 (1), p.34-41

2022

Volltextzugriff (PDF)

True Diaphragmatic Hernia (Morgagni Hernia) Incidentally Diagnosed with Positive Contrast Peritoneography in a Cat: A Rare Case Report and a Review

Veterinary sciences, 2024-04, Vol.11 (4), p.159

2024

Volltextzugriff (PDF)

Enrichment of LOVD-USHbases with 152 USH2A Genotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots

Human mutation, 2014-10, Vol.35 (10), p.1179-1186

2014

Volltextzugriff (PDF)

The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A

International journal of molecular sciences, 2021-12, Vol.22 (24), p.13294

2021

Volltextzugriff (PDF)

Assessment of the latest NGS enrichment capture methods in clinical context

Scientific reports, 2016-02, Vol.6 (1), p.20948-20948, Article 20948

2016

Volltextzugriff (PDF)

Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy

Human mutation, 2012-01, Vol.33 (1), p.104-108

2012

Volltextzugriff (PDF)

Xenotransfusion of Blood from Dog to Cat: Should Canine Blood Be Our First Choice for Feline Transfusion in Emergency Situations?

Veterinary sciences, 2022-02, Vol.9 (3), p.106

2022

Volltextzugriff (PDF)

Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degeneration

Scientific reports, 2020-10, Vol.10 (1), p.17520-17520, Article 17520

2020

Volltextzugriff (PDF)

Molecular Therapy for Choroideremia: Pre-clinical and Clinical Progress to Date

Molecular diagnosis & therapy, 2021-11, Vol.25 (6), p.661-675

2021

Volltextzugriff (PDF)

Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation

Molecular therapy. Nucleic acids, 2016, Vol.5 (10), p.e381-e381, Article e381

2016

Volltextzugriff (PDF)

Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss

European journal of human genetics : EJHG, 2023-07, Vol.31 (7), p.834-840

2023

Volltextzugriff (PDF)

Clinical Evaluation and Cone Alterations in Choroideremia

Ophthalmology (Rochester, Minn.), 2016-08, Vol.123 (8), p.1830-1832

2016

Volltextzugriff (PDF)

Non-USH2A mutations in USH2 patients

Human mutation, 2012-03, Vol.33 (3), p.504-510

2012

Volltextzugriff (PDF)

1 – 25 von 680

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(544)
Mit Volltextzugriff
(611)

Publikationsform

3 weitere anzeigen...

Weniger anzeigen...

Sprache

1 weiteren anzeigen...

Weniger anzeigen...

Erscheinungsjahr

n.n

Thema

Science & Technology
(402)
Life Sciences & Biomedicine
(360)
Humans
(227)
Life Sciences
(177)
Female
(152)
Biological And Medical Sciences
(116)
Male
(113)
Animals
(97)
Adult
(81)
Medical Sciences
(74)
Genetics & Heredity
(60)
Middle Aged
(56)
Biochemistry & Molecular Biology
(53)
Mutation
(51)
Aged
(49)
Fundamental And Applied Biological Sciences. Psychology
(48)
Rats
(46)
Physical Sciences
(40)
Obstetrics & Gynecology
(39)
Chemistry
(35)

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(1)
... seit 90 Tagen
(4)

Menü

Weitere Dienste

Einstellungen

Deafness-family matters

MobiDetails: online DNA variants interpretation

CHM mutation spectrum and disease: An update at the time of human therapeutic trials

The CYSMA web server: An example of integrative tool for in silico analysis of missense variants identified in Mendelian disorders

Gut and Urinary Microbiota in Cats with Kidney Stones

Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses

Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations

Genome Editing in Patient iPSCs Corrects the Most Prevalent USH2A Mutations and Reveals Intriguing Mutant mRNA Expression Profiles

Stuttering Priapism in a Dog—First Report

Evaluating the Transition from Targeted to Exome Sequencing: A Guide for Clinical Laboratories

Generation of a human iPSC line, INMi005-A, from a patient with non-syndromic USH2A-associated retinitis pigmentosa

Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing loss

True Diaphragmatic Hernia (Morgagni Hernia) Incidentally Diagnosed with Positive Contrast Peritoneography in a Cat: A Rare Case Report and a Review

Enrichment of LOVD-USHbases with 152 USH2A Genotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots

The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A

Assessment of the latest NGS enrichment capture methods in clinical context

Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy

Xenotransfusion of Blood from Dog to Cat: Should Canine Blood Be Our First Choice for Feline Transfusion in Emergency Situations?

Spectrum of the Mutations in Bernard-Soulier Syndrome

Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degeneration

Molecular Therapy for Choroideremia: Pre-clinical and Clinical Progress to Date

Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation

Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss

Clinical Evaluation and Cone Alterations in Choroideremia

Non-USH2A mutations in USH2 patients

Suchergebnisse filtern