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...

NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

Nature communications, 2020-09, Vol.11 (1), p.4625-4625, Article 4625

2020

Volltextzugriff (PDF)

Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans

Hepatology (Baltimore, Md.), 2020-06, Vol.71 (6), p.2067-2079

2020

Volltextzugriff (PDF)

Recessive Mutations in DOCK6, Encoding the Guanidine Nucleotide Exchange Factor DOCK6, Lead to Abnormal Actin Cytoskeleton Organization and Adams-Oliver Syndrome

American journal of human genetics, 2011-08, Vol.89 (2), p.328-333

2011

Volltextzugriff (PDF)

A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies

Human molecular genetics, 2015-03, Vol.24 (5), p.1410-1419

2015

Volltextzugriff (PDF)

Grebe-type chondrodysplasia: a novel missense mutation in a conserved cysteine of the growth differentiation factor 5

Journal of bone and mineral metabolism, 2008-11, Vol.26 (6), p.648-652

2008

Volltextzugriff (PDF)

Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus

American journal of medical genetics. Part A, 2013-09, Vol.161A (9), p.2244-2249

2013

Volltextzugriff (PDF)

Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract

Human genetics, 2017-02, Vol.136 (2), p.205-225

2017

Volltextzugriff (PDF)

Neu-Laxova Syndrome, an Inborn Error of Serine Metabolism, Is Caused by Mutations in PHGDH

American journal of human genetics, 2014-06, Vol.94 (6), p.898-904

2014

Volltextzugriff (PDF)

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy

American journal of human genetics, 2018-05, Vol.102 (5), p.858-873

2018

Volltextzugriff (PDF)

Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration

Nature genetics, 2018-08, Vol.50 (8), p.1093-1101

2018

Volltextzugriff (PDF)

Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction

American journal of human genetics, 2019-12, Vol.105 (6), p.1237-1253

2019

Volltextzugriff (PDF)

Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature

American journal of human genetics, 2019-11, Vol.105 (5), p.907-920

2019

Volltextzugriff (PDF)

Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome

American journal of human genetics, 2024-01, Vol.111 (1), p.200-210

2024

Volltextzugriff (PDF)

A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode

American journal of human genetics, 2022-09, Vol.109 (9), p.1713-1723

2022

Volltextzugriff (PDF)

Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis

Nature genetics, 2022-08, Vol.54 (8), p.1214-1226

2022

Volltextzugriff (PDF)

A TCTN2 mutation defines a novel Meckel Gruber syndrome locus

Human mutation, 2011-06, Vol.32 (6), p.573-578

2011

Volltextzugriff (PDF)

ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6)

Human molecular genetics, 2014-12, Vol.23 (24), p.6584-6593

2014

Volltextzugriff (PDF)

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

Nature communications, 2020-01, Vol.11 (1), p.595-595, Article 595

2020

Volltextzugriff (PDF)

1 – 22 von 22

Suche als RSS-Feed

Aktive Filter

ThemaAnimals

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(22)
Mit Volltextzugriff
(20)

Publikationsform

Artikel
(22)

Sprache

Englisch
(22)

Erscheinungsjahr

n.n

Thema

14 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

AMPD2 Regulates GTP Synthesis and Is Mutated in a Potentially Treatable Neurodegenerative Brainstem Disorder

Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans

Recessive Mutations in DOCK6, Encoding the Guanidine Nucleotide Exchange Factor DOCK6, Lead to Abnormal Actin Cytoskeleton Organization and Adams-Oliver Syndrome

A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies

Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice

Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors

Grebe-type chondrodysplasia: a novel missense mutation in a conserved cysteine of the growth differentiation factor 5

Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus

Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract

Neu-Laxova Syndrome, an Inborn Error of Serine Metabolism, Is Caused by Mutations in PHGDH

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy

Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration

Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction

Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature

Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome

A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode

Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis

A TCTN2 mutation defines a novel Meckel Gruber syndrome locus

ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6)

PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

Aktive Filter

Suchergebnisse filtern