UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 132

Sortiert nach

Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1

The lancet oncology, 2009-05, Vol.10 (5), p.508-515

2009

Volltextzugriff (PDF)

Long-Term Effect of Gene Therapy on Leber’s Congenital Amaurosis

The New England journal of medicine, 2015-05, Vol.372 (20), p.1887-1897

2015

Volltextzugriff (PDF)

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

Human mutation, 2022-07, Vol.43 (7), p.832-858

2022

Volltextzugriff (PDF)

Identification of a Novel BBS Gene ( BBS12) Highlights the Major Role of a Vertebrate-Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome

American journal of human genetics, 2007-01, Vol.80 (1), p.1-11

2007

Volltextzugriff (PDF)

FOXP1 -related intellectual disability syndrome: a recognisable entity

Journal of medical genetics, 2017-09, Vol.54 (9), p.613

2017

Volltextzugriff (PDF)

Implantable cardioverter-defibrillators in hypertrophic cardiomyopathy: Patient outcomes, rate of appropriate and inappropriate interventions, and complications

The American heart journal, 2013-09, Vol.166 (3), p.496-502

2013

Volltextzugriff (PDF)

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

European journal of human genetics : EJHG, 2011-01, Vol.19 (1), p.102-107

2011

Volltextzugriff (PDF)

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F‐mediated inherited retinal disorders

Human mutation, 2019-06, Vol.40 (6), p.765-787

2019

Volltextzugriff (PDF)

Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience

Frontiers in genetics, 2018-05, Vol.9, p.150-150

2018

Volltextzugriff (PDF)

High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients

Human genetics, 2011-02, Vol.129 (2), p.199-208

2011

Volltextzugriff (PDF)

Nature of the visual loss in observers with Leber's congenital amaurosis caused by specific mutations in RPE65

Investigative ophthalmology & visual science, 2014-09, Vol.55 (10), p.6817-6828

2014

Volltextzugriff (PDF)

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

Orphanet journal of rare diseases, 2015-05, Vol.10 (1), p.52-52, Article 52

2015

Volltextzugriff (PDF)

What's new in karyotyping? The move towards array comparative genomic hybridisation (CGH)

European journal of pediatrics, 2007-07, Vol.166 (7), p.637-643

2007

Volltextzugriff (PDF)

Spectral sensitivity measurements reveal partial success in restoring missing rod function with gene therapy

Journal of vision (Charlottesville, Va.), 2015-01, Vol.15 (15), p.20-20

2015

Volltextzugriff (PDF)

Predicting fetoplacental chromosomal mosaicism during non‐invasive prenatal testing

Prenatal diagnosis, 2018-03, Vol.38 (4), p.258-266

2018

Volltextzugriff (PDF)

Genome-wide haplotyping embryos developing from 0PN and 1PN zygotes increases transferrable embryos in PGT-M

Human reproduction (Oxford), 2018-10, Vol.33 (12), p.2302-2311

2018

Volltextzugriff (PDF)

Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene

Human mutation, 2019-08, Vol.40 (8), p.1145-1155, Article humu.23768

2019

Volltextzugriff (PDF)

Atypical neurofibromas in neurofibromatosis type 1 are premalignant tumors

Genes chromosomes & cancer, 2011-12, Vol.50 (12), p.1021-1032

2011

Volltextzugriff (PDF)

Neurofibromatosis type 1‐related pseudarthrosis: Beyond the pseudarthrosis site

Human mutation, 2019-10, Vol.40 (10), p.1760-1767

2019

Volltextzugriff (PDF)

Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening

Genetics in medicine, 2019-12, Vol.21 (12), p.2774-2780

2019

Volltextzugriff (PDF)

The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56

Scientific reports, 2020-01, Vol.10 (1), p.1289-1289, Article 1289

2020

Volltextzugriff (PDF)

Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families

PloS one, 2017-01, Vol.12 (1), p.e0170038-e0170038

2017

Volltextzugriff (PDF)

1 – 25 von 132

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(122)
Mit Volltextzugriff
(126)

Publikationsform

Artikel
(128)
Berichte
(4)

Sprache

Englisch
(132)
Japanisch
(22)

Erscheinungsjahr

n.n

Thema

Science & Technology
(105)
Humans
(103)
Life Sciences & Biomedicine
(103)
Genetics & Heredity
(72)
Female
(58)
Male
(55)
Mutation
(44)
Biological And Medical Sciences
(38)
Medical Sciences
(36)
Phenotype
(34)
Adult
(32)
Medical Genetics
(25)
Child
(24)
Child, Preschool
(19)
Fundamental And Applied Biological Sciences. Psychology
(18)
Genetics
(18)
Genetics Of Eukaryotes. Biological And Molecular Evolution
(17)
Middle Aged
(17)
Syndrome
(17)
Abnormalities, Multiple - Genetics
(16)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1

Long-Term Effect of Gene Therapy on Leber’s Congenital Amaurosis

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

Identification of a Novel BBS Gene ( BBS12) Highlights the Major Role of a Vertebrate-Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome

FOXP1 -related intellectual disability syndrome: a recognisable entity

Implantable cardioverter-defibrillators in hypertrophic cardiomyopathy: Patient outcomes, rate of appropriate and inappropriate interventions, and complications

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F‐mediated inherited retinal disorders

Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience

High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients

Nature of the visual loss in observers with Leber's congenital amaurosis caused by specific mutations in RPE65

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

What's new in karyotyping? The move towards array comparative genomic hybridisation (CGH)

Spectral sensitivity measurements reveal partial success in restoring missing rod function with gene therapy

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

Predicting fetoplacental chromosomal mosaicism during non‐invasive prenatal testing

Genome-wide haplotyping embryos developing from 0PN and 1PN zygotes increases transferrable embryos in PGT-M

Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene

Atypical neurofibromas in neurofibromatosis type 1 are premalignant tumors

Neurofibromatosis type 1‐related pseudarthrosis: Beyond the pseudarthrosis site

Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening

The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56

Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families

Suchergebnisse filtern