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...

Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish

American journal of human genetics, 2012-04, Vol.90 (4), p.661-674

2012

Volltextzugriff (PDF)

Mutation in Exon 1f of PLEC, Leading to Disruption of Plectin Isoform 1f, Causes Autosomal-Recessive Limb-Girdle Muscular Dystrophy

American journal of human genetics, 2010-12, Vol.87 (6), p.834-841

2010

Volltextzugriff (PDF)

Mutations in RIPK4 Cause the Autosomal-Recessive Form of Popliteal Pterygium Syndrome

American journal of human genetics, 2012-01, Vol.90 (1), p.76-85

2012

Volltextzugriff (PDF)

Defining mitochondrial protein functions through deep multiomic profiling

Nature (London), 2022-06, Vol.606 (7913), p.382-388

2022

Volltextzugriff (PDF)

Disruption of PTPRO Causes Childhood-Onset Nephrotic Syndrome

American journal of human genetics, 2011-07, Vol.89 (1), p.139-147

2011

Volltextzugriff (PDF)

Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding the Spectrum of Autosomal-Recessive ALX-Related Frontonasal Dysplasia

American journal of human genetics, 2010-05, Vol.86 (5), p.789-796

2010

Volltextzugriff (PDF)

Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association

Journal of allergy and clinical immunology, 2016-03, Vol.137 (3), p.879-888.e2

2016

Volltextzugriff (PDF)

Long-term results and comparison of flow re-direction endoluminal device and pipeline embolization device in endovascular treatment of intracranial carotid aneurysms

Interventional neuroradiology, 2022-06, Vol.28 (3), p.302-310

2022

Volltextzugriff (PDF)

Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome

European journal of human genetics : EJHG, 2017-10, Vol.25 (10), p.1118-1125

2017

Volltextzugriff (PDF)

A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb

Human mutation, 2010-01, Vol.31 (1), p.81-89

2010

Volltextzugriff (PDF)

CRIM1 haploinsufficiency causes defects in eye development in human and mouse

Human molecular genetics, 2015-04, Vol.24 (8), p.2267-2273

2015

Volltextzugriff (PDF)

Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia

British journal of ophthalmology, 2014-06, Vol.98 (6), p.832-840

2014

Volltextzugriff (PDF)

Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)

Nature genetics, 2003-12, Vol.35 (4), p.318-321

2003

Volltextzugriff (PDF)

Identification of KIF21A Mutations as a Rare Cause of Congenital Fibrosis of the Extraocular Muscles Type 3 (CFEOM3)

Investigative ophthalmology & visual science, 2004-07, Vol.45 (7), p.2218-2223

2004

Volltextzugriff (PDF)

Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features

The Journal of clinical investigation, 2017-11, Vol.127 (11), p.4090-4103

2017

Volltextzugriff (PDF)

Intracranial and extracranial malformations in patients with craniofacial anomalies

The Journal of craniofacial surgery, 2010-09, Vol.21 (5), p.1460-1464

2010

Volltextzugriff (PDF)

Marie Unna hereditary hypotrichosis: A Turkish family with loss of eyebrows and a U2HR mutation

American journal of medical genetics. Part A, 2010-10, Vol.152A (10), p.2628-2633

2010

Volltextzugriff (PDF)

Assignment of a Locus (GLC3A) for Primary Congenital Glaucoma (Buphthalmos) to 2p21 and Evidence for Genetic Heterogeneity

Genomics (San Diego, Calif.), 1995-11, Vol.30 (2), p.171-177

1995

Volltextzugriff (PDF)

Prevalence of Celiac Disease in Healthy Turkish School Children

The American journal of gastroenterology, 2011-08, Vol.106 (8), p.1512-1517

2011

Volltextzugriff (PDF)

Scopolamine-induced convulsions in fasted mice after food intake: determination of blood glucose levels, [ 3H]glutamate binding kinetics and antidopaminergic drug effects

Neuropharmacology, 2003-02, Vol.44 (2), p.199-205

2003

Volltextzugriff (PDF)

Colobomatous macrophthalmia with microcornea syndrome maps to the 2p23-p16 region

American journal of medical genetics. Part A, 2007-06, Vol.143A (12), p.1308-1312

2007

Volltextzugriff (PDF)

Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy

American journal of human genetics, 2021-07, Vol.108 (7), p.1301-1317

2021

Volltextzugriff (PDF)

Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13.3

American journal of medical genetics. Part A, 2005-05, Vol.134A (4), p.404-408

2005

Volltextzugriff (PDF)

Genomic Structure of HOXD13 Gene: A Nine Polyalanine Duplication Causes Synpolydactyly in Two Unrelated Families

Human molecular genetics, 1996-07, Vol.5 (7), p.945-952

1996

Volltextzugriff (PDF)

1 – 25 von 828

Suche als RSS-Feed

Aktive Filter

ThemaMiddle Aged

KollektionMEDLINE

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(772)
Mit Volltextzugriff
(660)

Publikationsform

Artikel
(827)
Tagungsberichte
(1)

Sprache

Englisch
(821)
Türkisch
(9)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 7 Tagen
(1)
... seit 90 Tagen
(2)

Menü

Weitere Dienste

Einstellungen

Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish

Mutation in Exon 1f of PLEC, Leading to Disruption of Plectin Isoform 1f, Causes Autosomal-Recessive Limb-Girdle Muscular Dystrophy

Mutations in RIPK4 Cause the Autosomal-Recessive Form of Popliteal Pterygium Syndrome

Defining mitochondrial protein functions through deep multiomic profiling

HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia

Disruption of PTPRO Causes Childhood-Onset Nephrotic Syndrome

Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding the Spectrum of Autosomal-Recessive ALX-Related Frontonasal Dysplasia

Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association

Long-term results and comparison of flow re-direction endoluminal device and pipeline embolization device in endovascular treatment of intracranial carotid aneurysms

Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome

A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb

CRIM1 haploinsufficiency causes defects in eye development in human and mouse

Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia

Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)

Identification of KIF21A Mutations as a Rare Cause of Congenital Fibrosis of the Extraocular Muscles Type 3 (CFEOM3)

Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features

Intracranial and extracranial malformations in patients with craniofacial anomalies

Marie Unna hereditary hypotrichosis: A Turkish family with loss of eyebrows and a U2HR mutation

Assignment of a Locus (GLC3A) for Primary Congenital Glaucoma (Buphthalmos) to 2p21 and Evidence for Genetic Heterogeneity

Prevalence of Celiac Disease in Healthy Turkish School Children

Scopolamine-induced convulsions in fasted mice after food intake: determination of blood glucose levels, [ 3H]glutamate binding kinetics and antidopaminergic drug effects

Colobomatous macrophthalmia with microcornea syndrome maps to the 2p23-p16 region

Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy

Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13.3

Genomic Structure of HOXD13 Gene: A Nine Polyalanine Duplication Causes Synpolydactyly in Two Unrelated Families

Aktive Filter

Suchergebnisse filtern