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...

Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies

Brain (London, England : 1878), 2017-09, Vol.140 (9), p.2337-2354

2017

Volltextzugriff (PDF)

De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

American journal of human genetics, 2013-11, Vol.93 (5), p.967-975

2013

Volltextzugriff (PDF)

De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies

Brain (London, England : 1878), 2022-06, Vol.145 (5), p.1684-1697

2022

Volltextzugriff (PDF)

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

Nature genetics, 2015-04, Vol.47 (4), p.393-399

2015

Volltextzugriff (PDF)

Lafora Disease: Molecular Etiology

Archives of Epilepsy, 2018-01, Vol.24 (1), p.1-7

Server Caglayan, Hande

2018

Volltextzugriff (PDF)

Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly

Human molecular genetics, 2015-04, Vol.24 (8), p.2218-2227

2015

Volltextzugriff (PDF)

Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies

EBioMedicine, 2022-10, Vol.84, p.104244-104244, Article 104244

2022

Volltextzugriff (PDF)

Exome data of developmental and epileptic encephalopathy patients reveals de novo and inherited pathologic variants in epilepsy-associated genes

Seizure (London, England), 2024-03, Vol.116, p.51-64

2024

Volltextzugriff (PDF)

Developmental and epileptic encephalopathy 82 (DEE82) with novel compound heterozygous mutations of GOT2 gene

Seizure (London, England), 2024-03, Vol.116, p.126-132

2024

Volltextzugriff (PDF)

Double trouble: Duchenne muscular dystrophy and hemophilia

Pediatric blood & cancer, 2013-03, Vol.60 (3), p.525-525

2013

Volltextzugriff (PDF)

Presentation of an unusual patient with Lafora disease

Epileptic disorders, 2012-03, Vol.14 (1), p.94-98

2012

Volltextzugriff (PDF)

Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features

American journal of human genetics, 2017-04, Vol.100 (4), p.676-688

2017

Volltextzugriff (PDF)

Functional characterisation of the type 1 von Willebrand disease candidate VWF gene variants: p.M771I, p.L881R and p.P1413L

Blood transfusion = Trasfusione del sangue, 2017-10, Vol.15 (6), p.548-556

2017

Volltextzugriff (PDF)

Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic atonic seizures

American journal of human genetics, 2015-05, Vol.96 (5), p.808-815

2015

Volltextzugriff (PDF)

De novo variants in neurodevelopmental disorders with epilepsy

Nature genetics, 2018-07, Vol.50 (7), p.1048-1053

2018

Volltextzugriff (PDF)

Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies

American journal of human genetics, 2018-12, Vol.103 (6), p.1022-1029

2018

Volltextzugriff (PDF)

SCN1A GENE SEQUENCING IN 46 TURKISH EPILEPSY PATIENTS DISCLOSED 12 NOVEL MUTATIONS

Seizure (London, England), 2016-07, Vol.39, p.34-43

2016

Volltextzugriff (PDF)

Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia

Brain (London, England : 1878), 2015-11, Vol.138 (Pt 11), p.3238-3250

2015

Volltextzugriff (PDF)

Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures

Epilepsia (Copenhagen), 2020-05, Vol.61 (5), p.995-1007

2020

Volltextzugriff (PDF)

Four novel and two recurrent NHLRC1 ( EPM2B ) and EPM2A gene mutations leading to Lafora disease in six Turkish families

Epilepsy research, 2012-02, Vol.98 (2), p.273-276

2012

Volltextzugriff (PDF)

Possible role of SCN4A skeletal muscle mutation in apnea during seizure

Epilepsia open, 2019-09, Vol.4 (3), p.498-503

2019

Volltextzugriff (PDF)

CHD2 variants are a risk factor for photosensitivity in epilepsy

Brain (London, England : 1878), 2015-05, Vol.138 (Pt 5), p.1198-1208

2015

Volltextzugriff (PDF)

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

American journal of human genetics, 2019-06, Vol.104 (6), p.1060-1072

2019

Volltextzugriff (PDF)

1 – 25 von 107

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(103)
Mit Volltextzugriff
(91)

Publikationsform

Sprache

Englisch
(107)
Japanisch
(17)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies

De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

Lafora Disease: Molecular Etiology

Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly

Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies

Exome data of developmental and epileptic encephalopathy patients reveals de novo and inherited pathologic variants in epilepsy-associated genes

Developmental and epileptic encephalopathy 82 (DEE82) with novel compound heterozygous mutations of GOT2 gene

Double trouble: Duchenne muscular dystrophy and hemophilia

Presentation of an unusual patient with Lafora disease

Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features

Functional characterisation of the type 1 von Willebrand disease candidate VWF gene variants: p.M771I, p.L881R and p.P1413L

Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic atonic seizures

De novo variants in neurodevelopmental disorders with epilepsy

Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies

SCN1A GENE SEQUENCING IN 46 TURKISH EPILEPSY PATIENTS DISCLOSED 12 NOVEL MUTATIONS

The phenotypic spectrum of SCN8A encephalopathy

Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia

Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures

Four novel and two recurrent NHLRC1 ( EPM2B ) and EPM2A gene mutations leading to Lafora disease in six Turkish families

Possible role of SCN4A skeletal muscle mutation in apnea during seizure

CHD2 variants are a risk factor for photosensitivity in epilepsy

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

Suchergebnisse filtern