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...

C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy

Nature genetics, 2007-09, Vol.39 (9), p.1068-1070

2007

Volltextzugriff (PDF)

Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions

Annals of neurology, 2003-09, Vol.54 (3), p.360-366

2003

Volltextzugriff (PDF)

Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63

Human molecular genetics, 2002-04, Vol.11 (7), p.799-804

2002

Volltextzugriff (PDF)

First case of compound heterozygosity in Na,K-ATPase gene ATP1A2 in familial hemiplegic migraine

European journal of human genetics : EJHG, 2007-08, Vol.15 (8), p.884-888

2007

Volltextzugriff (PDF)

Familial Hemiplegic Migraine Presenting as Recurrent Encephalopathy in a Native Indian Family

Headache, 2005-10, Vol.45 (9), p.1244-1249

2005

Volltextzugriff (PDF)

Two de novo mutations in the Na,K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine

European journal of human genetics : EJHG, 2006-05, Vol.14 (5), p.555-560

2006

Volltextzugriff (PDF)

Familial hemiplegic migraine is associated with febrile seizures in an FHM2 family with a novel de novo ATP1A2 mutation

Epilepsia (Copenhagen), 2009-11, Vol.50 (11), p.2503-2504

2009

Volltextzugriff (PDF)

p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation

American journal of human genetics, 2001-09, Vol.69 (3), p.481-492

2001

Volltextzugriff (PDF)

The Phe-124-Cys and A-161T Variants of the Human 5-HT1B Receptor Gene Are Not Major Determinants of the Clinical Response to Sumatriptan

Headache, 2007-05, Vol.47 (5), p.711-716

2007

Volltextzugriff (PDF)

Migraine genetics: an update

Current pain and headache reports, 2005-06, Vol.9 (3), p.213-220

2005

Volltextzugriff (PDF)

Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake

Archives of neurology (Chicago), 2009-01, Vol.66 (1), p.97

2009

Volltextzugriff (PDF)

Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migraine

Journal of human genetics, 2007-12, Vol.52 (12), p.990-998

2007

Volltextzugriff (PDF)

Toward a molecular genetic classification of familial hemiplegic migraine

Current pain and headache reports, 2004-06, Vol.8 (3), p.238-243

2004

Volltextzugriff (PDF)

Recent findings in headache genetics

Current opinion in neurology, 2004-06, Vol.17 (3), p.283-288

2004

Volltextzugriff (PDF)

The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies. Mutation in brief #957. Online

Human mutation, 2007-05, Vol.28 (5), p.522

2007

Volltextzugriff (PDF)

Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63

Human molecular genetics, 2001-02, Vol.10 (3), p.221-229

2001

Volltextzugriff (PDF)

New discoveries about the second gene for familial hemiplegic migraine, ATP1A2

Lancet neurology, 2003-12, Vol.2 (12), p.721-721

2003

Volltextzugriff (PDF)

Mutation analysis of CACNA1A and ATP1A2 genes in Brazilian FHM families

Arquivos de neuro-psiquiatria, 2006-09, Vol.64 (3A), p.549-552

2006

Volltextzugriff (PDF)

The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies

Human mutation, 2007-05, Vol.28 (5), p.522-522

2007

Volltextzugriff (PDF)

The Phe‐124‐Cys and A‐161T Variants of the Human 5‐HT 1B Receptor Gene Are Not Major Determinants of the Clinical Response to Sumatriptan

Headache, 2007-05, Vol.47 (5), p.711-716

2007

Volltextzugriff (PDF)

The Phe-124-Cys and A-161T Variants of the Human 5-HT sub(1B) Receptor Gene Are Not Major Determinants of the Clinical Response to Sumatriptan

Headache, 2007-05, Vol.47 (5), p.711-716

2007

Volltextzugriff (PDF)

Brief Communication: Familial Hemiplegic Migraine Presenting as Recurrent Encephalopathy in a Native Indian Family

Headache, 2005-10, Vol.45 (9), p.1244-1249

2005

Volltextzugriff (PDF)

Familial hemiplegic migraine is associated with febrile seizures in an FHM2 family with a novel de novo ATP1A2 mutation

Epilepsia, 2009, Vol.50 (11), p.2503-2504

2009

Volltextzugriff (PDF)

Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63

Human molecular genetics, 2001-02, Vol.10 (3), p.221-229

2001

Volltextzugriff (PDF)

1 – 24 von 24

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

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

Publikationsform

Artikel
(23)
Berichte
(1)

Sprache

Englisch
(24)

Erscheinungsjahr

n.n

Thema

Humans
(18)
Life Sciences & Biomedicine
(15)
Science & Technology
(15)
Biological And Medical Sciences
(10)
Female
(10)
Male
(10)
Medical Sciences
(10)
Mutation
(10)
Sodium-Potassium-Exchanging Atpase - Genetics
(10)
Migraine With Aura - Genetics
(9)
Neurosciences & Neurology
(8)
Adult
(7)
Clinical Neurology
(7)
Dna Mutational Analysis
(7)
Genetics & Heredity
(7)
Middle Aged
(7)
Migraine Disorders - Genetics
(7)
Neurology
(6)
Pedigree
(6)
Amino Acid Sequence
(5)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy

Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions

Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63

First case of compound heterozygosity in Na,K-ATPase gene ATP1A2 in familial hemiplegic migraine

Familial Hemiplegic Migraine Presenting as Recurrent Encephalopathy in a Native Indian Family

Two de novo mutations in the Na,K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine

Familial hemiplegic migraine is associated with febrile seizures in an FHM2 family with a novel de novo ATP1A2 mutation

p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation

The Phe-124-Cys and A-161T Variants of the Human 5-HT1B Receptor Gene Are Not Major Determinants of the Clinical Response to Sumatriptan

Migraine genetics: an update

Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake

Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migraine

Toward a molecular genetic classification of familial hemiplegic migraine

Recent findings in headache genetics

The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies. Mutation in brief #957. Online

Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63

New discoveries about the second gene for familial hemiplegic migraine, ATP1A2

Mutation analysis of CACNA1A and ATP1A2 genes in Brazilian FHM families

The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies

The Phe‐124‐Cys and A‐161T Variants of the Human 5‐HT 1B Receptor Gene Are Not Major Determinants of the Clinical Response to Sumatriptan

The Phe-124-Cys and A-161T Variants of the Human 5-HT sub(1B) Receptor Gene Are Not Major Determinants of the Clinical Response to Sumatriptan

Brief Communication: Familial Hemiplegic Migraine Presenting as Recurrent Encephalopathy in a Native Indian Family

Familial hemiplegic migraine is associated with febrile seizures in an FHM2 family with a novel de novo ATP1A2 mutation

Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63

Suchergebnisse filtern