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...

Alternating hemiplegia of childhood or familial hemiplegic migraine?: A novel ATP1A2 mutation

Annals of neurology, 2004-06, Vol.55 (6), p.884-887

2004

Volltextzugriff (PDF)

A novel potassium channel gene, KCNQ2 , is mutated in an inherited epilepsy of newborns

Nature genetics, 1998-01, Vol.18 (1), p.25-29

1998

Volltextzugriff (PDF)

A family-based paradigm to identify candidate chromosomal regions for isolated congenital diaphragmatic hernia

American journal of medical genetics. Part A, 2012-12, Vol.158A (12), p.3137-3147

2012

Volltextzugriff (PDF)

A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family

Nature genetics, 1998-01, Vol.18 (1), p.53-55

1998

Volltextzugriff (PDF)

Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4) : Clinical description and genetic localization to chromosome 16q22.1

American journal of human genetics, 1996-08, Vol.59 (2), p.392-399

1996

Volltextzugriff (PDF)

Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus

American journal of medical genetics. Part A, 2015-12, Vol.167A (12), p.2975-2984

2015

Volltextzugriff (PDF)

A frameshift polymorphism in P2X5 elicits an allogeneic cytotoxic T lymphocyte response associated with remission of chronic myeloid leukemia

The Journal of clinical investigation, 2005-12, Vol.115 (12), p.3506-3516

2005

Volltextzugriff (PDF)

Mutations in CYP1B1, the Gene for Cytochrome P4501B1, Are the Predominant Cause of Primary Congenital Glaucoma in Saudi Arabia

American journal of human genetics, 1998-02, Vol.62 (2), p.325-333

1998

Volltextzugriff (PDF)

AGT Genetic Variation, Plasma AGT, and Blood Pressure: An Analysis of the Utah Genetic Reference Project Pedigrees

American journal of hypertension, 2010-08, Vol.23 (8), p.917-923

2010

Volltextzugriff (PDF)

Colorectal adenomas and cancer link to chromosome 13q22.1–13q31.3 in a large family with excess colorectal cancer

Journal of medical genetics, 2010-10, Vol.47 (10), p.692-699

2010

Volltextzugriff (PDF)

A locus for febrile seizures (FEB3) maps to chromosome 2q23‐24

Annals of neurology, 1999-10, Vol.46 (4), p.671-678

1999

Volltextzugriff (PDF)

Linkage analysis of Tourette syndrome in a large utah pedigree

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2010-03, Vol.153B (2), p.656-662

2010

Volltextzugriff (PDF)

Genome Scan for Tourette Disorder in Affected-Sibling-Pair and Multigenerational Families

American journal of human genetics, 2007-02, Vol.80 (2), p.265-272

Anon

2007

Volltextzugriff (PDF)

Dihydropyridine receptor mutations cause hypokalemic periodic paralysis

Cell, 1994-06, Vol.77 (6), p.863-868

1994

Volltextzugriff (PDF)

Genetic linkage analysis in familial benign (hypocalciuric) hypercalcemia : evidence for locus heterogeneity

American journal of human genetics, 1993-07, Vol.53 (1), p.193-200

1993

Volltextzugriff (PDF)

Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients

Cell, 1990-06, Vol.61 (5), p.863-870

1990

Volltextzugriff (PDF)

Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p

Nature genetics, 1995-05, Vol.10 (1), p.89-93

1995

Volltextzugriff (PDF)

Analysis of a Scottish founder effect narrows the TAPVR-1 gene interval to chromosome 4q12

American journal of medical genetics. Part A, 2006-11, Vol.140A (21), p.2368-2373

2006

Volltextzugriff (PDF)

Hereditary hyperparathyroidism-jaw tumor syndrome : the endocrine tumor gene HRPT2 maps to chromosome 1q21-q31

American journal of human genetics, 1995-04, Vol.56 (4), p.944-950

1995

Volltextzugriff (PDF)

Novel Locus for Autosomal Dominant Hereditary Spastic Paraplegia, on Chromosome 8q

American journal of human genetics, 1999-02, Vol.64 (2), p.563-569

1999

Volltextzugriff (PDF)

The identical 5' splice-site acceptor mutation in five attenuated APC families from Newfoundland demonstrates a founder effect

Human genetics, 1999-11, Vol.105 (5), p.388-398

1999

Volltextzugriff (PDF)

Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q

American journal of human genetics, 1996-07, Vol.59 (1), p.140-145

1996

Volltextzugriff (PDF)

Autosomal dominant familial spastic paraplegia : tight linkage to chromosome 15q

American journal of human genetics, 1995, Vol.56 (1), p.188-192

1995

Volltextzugriff (PDF)

Linkage of a Familial Platelet Disorder With a Propensity to Develop Myeloid Malignancies to Human Chromosome 21q22.1-22.2

Blood, 1996-06, Vol.87 (12), p.5218-5224

1996

Volltextzugriff (PDF)

Hyperparathyroidism–Jaw Tumor Syndrome: The HRPT2 Locus Is within a 0.7-cM Region on Chromosome 1q

American journal of human genetics, 1999-02, Vol.64 (2), p.518-525

1999

Volltextzugriff (PDF)

1 – 25 von 37

Suche als RSS-Feed

Aktive Filter

Nur zeigenMit Volltextzugriff

ThemaPedigree

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(36)

Publikationsform

Artikel
(37)

Sprache

Englisch
(37)

Erscheinungsjahr

n.n

Thema

14 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Alternating hemiplegia of childhood or familial hemiplegic migraine?: A novel ATP1A2 mutation

A novel potassium channel gene, KCNQ2 , is mutated in an inherited epilepsy of newborns

A family-based paradigm to identify candidate chromosomal regions for isolated congenital diaphragmatic hernia

A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family

Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4) : Clinical description and genetic localization to chromosome 16q22.1

Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus

A frameshift polymorphism in P2X5 elicits an allogeneic cytotoxic T lymphocyte response associated with remission of chronic myeloid leukemia

Mutations in CYP1B1, the Gene for Cytochrome P4501B1, Are the Predominant Cause of Primary Congenital Glaucoma in Saudi Arabia

AGT Genetic Variation, Plasma AGT, and Blood Pressure: An Analysis of the Utah Genetic Reference Project Pedigrees

Colorectal adenomas and cancer link to chromosome 13q22.1–13q31.3 in a large family with excess colorectal cancer

A locus for febrile seizures (FEB3) maps to chromosome 2q23‐24

Linkage analysis of Tourette syndrome in a large utah pedigree

Genome Scan for Tourette Disorder in Affected-Sibling-Pair and Multigenerational Families

Dihydropyridine receptor mutations cause hypokalemic periodic paralysis

Genetic linkage analysis in familial benign (hypocalciuric) hypercalcemia : evidence for locus heterogeneity

Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients

Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p

Analysis of a Scottish founder effect narrows the TAPVR-1 gene interval to chromosome 4q12

Hereditary hyperparathyroidism-jaw tumor syndrome : the endocrine tumor gene HRPT2 maps to chromosome 1q21-q31

Novel Locus for Autosomal Dominant Hereditary Spastic Paraplegia, on Chromosome 8q

The identical 5' splice-site acceptor mutation in five attenuated APC families from Newfoundland demonstrates a founder effect

Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q

Autosomal dominant familial spastic paraplegia : tight linkage to chromosome 15q

Linkage of a Familial Platelet Disorder With a Propensity to Develop Myeloid Malignancies to Human Chromosome 21q22.1-22.2

Hyperparathyroidism–Jaw Tumor Syndrome: The HRPT2 Locus Is within a 0.7-cM Region on Chromosome 1q

Aktive Filter

Suchergebnisse filtern