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...

Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes

Journal of medical genetics, 2012-04, Vol.49 (4), p.234-241

2012

Volltextzugriff (PDF)

NECAP1 loss of function leads to a severe infantile epileptic encephalopathy

Journal of medical genetics, 2014-04, Vol.51 (4), p.224-228

2014

Volltextzugriff (PDF)

Study of Mendelian forms of Crohn's disease in Saudi Arabia reveals novel risk loci and alleles

Gut, 2014-11, Vol.63 (11), p.1831-1832

2014

Volltextzugriff (PDF)

Genome-wide association study of chronic hepatitis B virus infection reveals a novel candidate risk allele on 11q22.3

Journal of medical genetics, 2013-11, Vol.50 (11), p.725-732

2013

Volltextzugriff (PDF)

WNT1 mutation with recessive osteogenesis imperfecta and profound neurological phenotype

Journal of medical genetics, 2013-07, Vol.50 (7), p.491-492

2013

Volltextzugriff (PDF)

Human knockouts of PLA2G4A phenocopy NSAID-induced gastrointestinal and renal toxicity

Gut, 2016-09, Vol.65 (9), p.1575-1577

2016

Volltextzugriff (PDF)

Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation

Journal of medical genetics, 2012-03, Vol.49 (3), p.184-186

2012

Volltextzugriff (PDF)

Mutation in PLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism

Journal of medical genetics, 2014-12, Vol.51 (12), p.814-816

2014

Volltextzugriff (PDF)

Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation

Journal of medical genetics, 2012-10, Vol.49 (10), p.630-635

2012

Volltextzugriff (PDF)

Complementation of hypersensitivity to DNA interstrand crosslinking agents demonstrates that XRCC2 is a Fanconi anaemia gene

Journal of medical genetics, 2016-10, Vol.53 (10), p.672-680

2016

Volltextzugriff (PDF)

Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation

Journal of medical genetics, 2012-01, Vol.49 (1), p.16-20

2012

Volltextzugriff (PDF)

Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement

Journal of medical genetics, 2023-07, Vol.60 (7), p.627-635

2023

Volltextzugriff (PDF)

A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B

Journal of medical genetics, 2015-06, Vol.52 (6), p.400-404

2015

Volltextzugriff (PDF)

The study of Lynch syndrome in a special population reveals a strong founder effect and an unusual mutational mechanism in familial adenomatous polyposis

Gut, 2020-11, Vol.69 (11), p.2048-2049

2020

Volltextzugriff (PDF)

Novel CENPJ mutation causes Seckel syndrome

Journal of medical genetics, 2010-06, Vol.47 (6), p.411-414

2010

Volltextzugriff (PDF)

Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus

Journal of medical genetics, 2013-07, Vol.50 (7), p.425-430

2013

Volltextzugriff (PDF)

Mutations in phospholipase C eta-1 ( PLCH1 ) are associated with holoprosencephaly

Journal of medical genetics, 2022-04, Vol.59 (4), p.358-365

2022

Volltextzugriff (PDF)

Mutation in MPDZ causes severe congenital hydrocephalus

Journal of medical genetics, 2013-01, Vol.50 (1), p.54-58

2013

Volltextzugriff (PDF)

The distinct ophthalmic phenotype of Knobloch syndrome in children

British journal of ophthalmology, 2012-06, Vol.96 (6), p.890-895

2012

Volltextzugriff (PDF)

Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans

Journal of medical genetics, 2023-03, Vol.60 (3), p.294-300

2023

Volltextzugriff (PDF)

Clinical characterisation of the CABP4-related retinal phenotype

British journal of ophthalmology, 2013-03, Vol.97 (3), p.262-265

2013

Volltextzugriff (PDF)

Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve–Melchior–Clausen locus

Journal of medical genetics, 2012-07, Vol.49 (7), p.455-461

2012

Volltextzugriff (PDF)

Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations

Journal of medical genetics, 2016-06, Vol.53 (6), p.427-430

2016

Volltextzugriff (PDF)

ARF1 -related disorder: phenotypic and molecular spectrum

Journal of medical genetics, 2023-10, Vol.60 (10), p.999-1005

2023

Volltextzugriff (PDF)

Variable phenotypic expression of COG6 mutations

Journal of medical genetics, 2014-06, Vol.51 (6), p.425-426

2014

Volltextzugriff (PDF)

1 – 25 von 39

Suche als RSS-Feed

Aktive Filter

KollektionBMJ Journals Archiv - DFG Nationallizenzen

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(39)
Mit Volltextzugriff
(33)

Publikationsform

Artikel
(39)

Sprache

Englisch
(39)
Japanisch
(5)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Kollektion

Zeitschrift / Serie

Menü

Weitere Dienste

Einstellungen

Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes

NECAP1 loss of function leads to a severe infantile epileptic encephalopathy

Study of Mendelian forms of Crohn's disease in Saudi Arabia reveals novel risk loci and alleles

Genome-wide association study of chronic hepatitis B virus infection reveals a novel candidate risk allele on 11q22.3

WNT1 mutation with recessive osteogenesis imperfecta and profound neurological phenotype

Human knockouts of PLA2G4A phenocopy NSAID-induced gastrointestinal and renal toxicity

Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation

Mutation in PLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism

Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation

Complementation of hypersensitivity to DNA interstrand crosslinking agents demonstrates that XRCC2 is a Fanconi anaemia gene

Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation

Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement

A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B

The study of Lynch syndrome in a special population reveals a strong founder effect and an unusual mutational mechanism in familial adenomatous polyposis

Novel CENPJ mutation causes Seckel syndrome

Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus

Mutations in phospholipase C eta-1 ( PLCH1 ) are associated with holoprosencephaly

Mutation in MPDZ causes severe congenital hydrocephalus

The distinct ophthalmic phenotype of Knobloch syndrome in children

Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans

Clinical characterisation of the CABP4-related retinal phenotype

Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve–Melchior–Clausen locus

Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations

ARF1 -related disorder: phenotypic and molecular spectrum

Variable phenotypic expression of COG6 mutations

Aktive Filter

Suchergebnisse filtern