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...

Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss

PloS one, 2015-11, Vol.10 (11), p.e0142154-e0142154

2015

Volltextzugriff (PDF)

A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss

Human genetics, 2019-10, Vol.138 (10), p.1071-1075

2019

Volltextzugriff (PDF)

Novel GPR156 variants confirm its role in moderate sensorineural hearing loss

Scientific reports, 2023-10, Vol.13 (1), p.17010-17010, Article 17010

2023

Volltextzugriff (PDF)

Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia

American journal of human genetics, 2011-08, Vol.89 (2), p.289-294

2011

Volltextzugriff (PDF)

Ripor2 is involved in auditory hair cell stereociliary bundle structure and orientation

Journal of molecular medicine (Berlin, Germany), 2018-11, Vol.96 (11), p.1227-1238

2018

Volltextzugriff (PDF)

Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability

PloS one, 2018-11, Vol.13 (11), p.e0208324-e0208324

2018

Volltextzugriff (PDF)

MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss

Human genetics, 2018-07, Vol.137 (6-7), p.479-486

2018

Volltextzugriff (PDF)

Conventional and molecular cytogenetic analyses in Turkish patients with multiple myeloma

Turkish journal of haematology, 2012-06, Vol.29 (2), p.135-142

2012

Volltextzugriff (PDF)

C9ORF72 Intermediate Repeat Copies Are a Significant Risk Factor for Parkinson Disease

Annals of human genetics, 2013-09, Vol.77 (5), p.351-363

2013

Volltextzugriff (PDF)

Dispersed DNA variants underlie hearing loss in South Florida's minority population

Human genomics, 2023-11, Vol.17 (1), p.103-103, Article 103

2023

Volltextzugriff (PDF)

Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome

Orphanet journal of rare diseases, 2015-09, Vol.10 (1), p.128-128, Article 128

2015

Volltextzugriff (PDF)

MORFAN Syndrome: An Infantile Hypoinsulinemic Hypoketotic Hypoglycemia Due to an AKT2 Mutation

The Journal of pediatrics, 2015-08, Vol.167 (2), p.489-491

2015

Volltextzugriff (PDF)

Identifying consensus disease pathways in Parkinson's disease using an integrative systems biology approach

PloS one, 2011-02, Vol.6 (2), p.e16917-e16917

2011

Volltextzugriff (PDF)

Comparison of three targeted enrichment strategies on the SOLiD sequencing platform

PloS one, 2011-04, Vol.6 (4), p.e18595-e18595

2011

Volltextzugriff (PDF)

Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida

Genes, 2020-03, Vol.11 (4), p.350

2020

Volltextzugriff (PDF)

Conventional and molecular cytogenetic analyses in Turkish patients with multiple myeloma / Multipl Miyelom Tanili Turk Hastalarda Konvansiyonel ve Molekuler Sitogenetik Analizler

Turkish journal of haematology, 2012-06, Vol.29 (2), p.135

2012

Volltextzugriff (PDF)

Identification of Main Genetic Causes Responsible for Non-Syndromic Hearing Loss in a Peruvian Population

Genes, 2019-07, Vol.10 (8), p.581

2019

Volltextzugriff (PDF)

Tyrosine hydroxylase gene: another piece of the genetic puzzle of Parkinson's disease

CNS & neurological disorders drug targets, 2012-06, Vol.11 (4), p.469-481

2012

Volltextzugriff (PDF)

Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies

Molecular cytogenetics, 2018-08, Vol.11 (1), p.43-6, Article 43

2018

Volltextzugriff (PDF)

A Truncating Mutation in SERPINB6 Is Associated with Autosomal-Recessive Nonsyndromic Sensorineural Hearing Loss

American journal of human genetics, 2010-05, Vol.86 (5), p.797-804

2010

Volltextzugriff (PDF)

Commercial Gene Panels for Congenital Anterior Segment Anomalies: Are They All the Same?

American journal of ophthalmology, 2023-07, Vol.251, p.90-103

2023

Volltextzugriff (PDF)

Diagnostic yield of two gene panel assays for nonacquired childhood anterior segment diseases

Journal of AAPOS, 2022-08, Vol.26 (4), p.e34-e34

2022

Volltextzugriff (PDF)

Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2

European journal of human genetics : EJHG, 2024-06, Vol.32 (6), p.639-646

2024

Volltextzugriff (PDF)

Confirmation of COL4A6 variants in X-linked nonsyndromic hearing loss and its clinical implications

European journal of human genetics : EJHG, 2022-01, Vol.30 (1), p.7-12

2022

Volltextzugriff (PDF)

Diagnostic yield of next generation sequencing gene panel assays for early-onset glaucoma in an ethnically diverse population

Journal of AAPOS, 2022-12, Vol.26 (6), p.302.e1-302.e6

2022

Volltextzugriff (PDF)

1 – 25 von 43

Suche als RSS-Feed

Aktive Filter

KollektionIngenta

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(43)
Mit Volltextzugriff
(40)

Publikationsform

Artikel
(43)

Sprache

Englisch
(43)
Japanisch
(2)

Erscheinungsjahr

n.n

Thema

Science & Technology
(36)
Humans
(31)
Life Sciences & Biomedicine
(31)
Genetics & Heredity
(19)
Male
(19)
Female
(18)
Mutation
(16)
Hearing Loss
(15)
Pedigree
(15)
Genes
(11)
Adult
(10)
Genomics
(10)
Deafness
(9)
Child
(8)
Hearing Loss, Sensorineural - Genetics
(8)
Pediatrics
(8)
Deafness - Genetics
(7)
Child, Preschool
(6)
Genetic Predisposition To Disease
(6)
Genetics
(6)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss

A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss

Novel GPR156 variants confirm its role in moderate sensorineural hearing loss

Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia

Ripor2 is involved in auditory hair cell stereociliary bundle structure and orientation

Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability

MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss

Conventional and molecular cytogenetic analyses in Turkish patients with multiple myeloma

C9ORF72 Intermediate Repeat Copies Are a Significant Risk Factor for Parkinson Disease

Dispersed DNA variants underlie hearing loss in South Florida's minority population

Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome

MORFAN Syndrome: An Infantile Hypoinsulinemic Hypoketotic Hypoglycemia Due to an AKT2 Mutation

Identifying consensus disease pathways in Parkinson's disease using an integrative systems biology approach

Comparison of three targeted enrichment strategies on the SOLiD sequencing platform

Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida

Conventional and molecular cytogenetic analyses in Turkish patients with multiple myeloma / Multipl Miyelom Tanili Turk Hastalarda Konvansiyonel ve Molekuler Sitogenetik Analizler

Identification of Main Genetic Causes Responsible for Non-Syndromic Hearing Loss in a Peruvian Population

Tyrosine hydroxylase gene: another piece of the genetic puzzle of Parkinson's disease

Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies

A Truncating Mutation in SERPINB6 Is Associated with Autosomal-Recessive Nonsyndromic Sensorineural Hearing Loss

Commercial Gene Panels for Congenital Anterior Segment Anomalies: Are They All the Same?

Diagnostic yield of two gene panel assays for nonacquired childhood anterior segment diseases

Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2

Confirmation of COL4A6 variants in X-linked nonsyndromic hearing loss and its clinical implications

Diagnostic yield of next generation sequencing gene panel assays for early-onset glaucoma in an ethnically diverse population

Aktive Filter

Suchergebnisse filtern