UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 395

Sortiert nach

Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia

British journal of anaesthesia : BJA, 2001-02, Vol.86 (2), p.283-287

2001

Volltextzugriff (PDF)

Common variation in NCAN, a risk factor for bipolar disorder and schizophrenia, influences local cortical folding in schizophrenia

Psychological medicine, 2014-03, Vol.44 (4), p.811-820

2014

Volltextzugriff (PDF)

High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia

Neurology, 2006-12, Vol.67 (11), p.1926

2006

Volltextzugriff (PDF)

Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia

Human mutation, 2002-08, Vol.20 (2), p.127-132

2002

Volltextzugriff (PDF)

Effect of regular sauna on epidermal barrier function and stratum corneum water-holding capacity in vivo in humans: a controlled study

Dermatology (Basel), 2008-01, Vol.217 (2), p.173

2008

Volltextzugriff (PDF)

Isoform-specific increase of spastin stability by N-terminal missense variants including intragenic modifiers of SPG4 hereditary spastic paraplegia

European journal of neurology, 2007-12, Vol.14 (12), p.1322-1328

2007

Volltextzugriff (PDF)

Morphological and electrophysiological features of mature neurons in differentiated skin-derived precursor cells

Journal of stem cells & regenerative medicine, 2012-01, Vol.8 (1), p.35-36

2012

Volltextzugriff (PDF)

Unexpected pathogenic mechanism of a novel mutation in the coding sequence of SPG4 (spastin)

Neurology, 2006-02, Vol.66 (3), p.421

2006

Volltextzugriff (PDF)

POS-03.92: Early detection of prostata carcinoma: comparison of the diagnostical accuracy of complexed psa and ratio c/tpsa versus total psa and ratio F/TPSA

Urology (Ridgewood, N.J.), 2007, Vol.70 (3), p.301-301

2007

Volltextzugriff (PDF)

A new gene locus for an autosomal-dominant non-syndromic hearing impairment (DFNA 33) is situated on chromosome 13q34-qter

HNO, 2009-04, Vol.57 (4), p.371-376

2009

Volltextzugriff (PDF)

Motor system abnormalities in hereditary spastic paraparesis type 4 (SPG4) depend on the type of mutation in the spastin gene

Journal of neurology, neurosurgery and psychiatry, 2003-08, Vol.74 (8), p.1109-1112

2003

Volltextzugriff (PDF)

A new locus for an autosomal dominant, non-syndromic hearing impairment (DFNA57) located on chromosome 19p13.2 and overlapping with DFNB15

HNO, 2008-02, Vol.56 (2), p.177-182

2008

Volltextzugriff (PDF)

G.P.18.10 A novel duplication in the SPAST gene associated to gender difference of hereditary spastic paraplegia

Neuromuscular disorders : NMD, 2007, Vol.17 (9), p.893-893

2007

Volltextzugriff (PDF)

Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short‐chain acyl‐CoA dehydrogenase gene

Journal of inherited metabolic disease, 2003-07, Vol.26 (1), p.37-42

2003

Volltextzugriff (PDF)

Discordance, in a malignant hyperthermia pedigree, between in vitro contracture-test phenotypes and haplotypes for the MHS1 region on chromosome 19q12-13.2, comprising the C1840T transition in the RYR1 gene

American journal of human genetics, 1995-06, Vol.56 (6), p.1334-1342

1995

Volltextzugriff (PDF)

Nerve cell lesions caused by 3‐hydroxyglutaric acid: A possible mechanism for neurodegeneration in glutaric acidaemia I

Journal of inherited metabolic disease, 1997-07, Vol.20 (3), p.387-390

1997

Volltextzugriff (PDF)

PROMM and deafness: exclusion of ZNF9 as the disease gene in DFNA18 suggests a polygenic origin of the PROMM/DM2 phenotype

Clinical genetics, 2003-01, Vol.63 (1), p.73-75

2003

Volltextzugriff (PDF)

Evidence for genetic heterogeneity of malignant hyperthermia susceptibility

American journal of human genetics, 1992-06, Vol.50 (6), p.1151-1161

1992

Volltextzugriff (PDF)

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

Human molecular genetics, 2000-03, Vol.9 (4), p.637-644

2000

Volltextzugriff (PDF)

Ein neuer Genort für eine autosomal-dominante, nichtsyndromale Schwerhörigkeit (DFNA33) liegt auf Chromosom 13q34-qter

HNO, 2009-04, Vol.57 (4), p.371-376

2009

Volltextzugriff (PDF)

Pyridoxine--responsive West syndrome and gamma-aminobutyric acid

European journal of pediatrics, 1997-02, Vol.156 (2), p.158

1997

Volltextzugriff (PDF)

Assessment of tubular reabsorption of sodium, glucose, phosphate and amino acids based on spot urine samples

Acta Paediatrica, 1994-12, Vol.83 (12), p.1282-1286

1994

Volltextzugriff (PDF)

Effects of fat-modified dairy products on blood lipids in humans in comparison with other fats

Annals of nutrition and metabolism, 2005-01, Vol.49 (1), p.42-48

2005

Volltextzugriff (PDF)

Carbohydrate-deficient glycoprotein syndrome (CDGS)--glycosylation, folding and intracellular transport of newly synthesized glycoproteins

European journal of cell biology, 1995-03, Vol.66 (3), p.268-273

1995

Volltextzugriff (PDF)

Genetic homogeneity at the Friedreich ataxia locus on chromosome 9

American journal of human genetics, 1989-04, Vol.44 (4), p.518-521

1989

Volltextzugriff (PDF)

1 – 25 von 395

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(331)
Mit Volltextzugriff
(324)

Publikationsform

2 weitere anzeigen...

Weniger anzeigen...

Sprache

Erscheinungsjahr

n.n

Thema

Science & Technology
(220)
Life Sciences & Biomedicine
(182)
Humans
(153)
Male
(75)
Biological And Medical Sciences
(69)
Medical Sciences
(67)
Female
(58)
Adult
(39)
Radiology, Nuclear Medicine & Medical Imaging
(37)
Physical Sciences
(32)
Middle Aged
(31)
Oncology
(31)
Neurosciences & Neurology
(29)
Clinical Neurology
(28)
Animals
(26)
Biochemistry & Molecular Biology
(25)
Genetics & Heredity
(25)
Hematology, Oncology And Palliative Medicine
(25)
Pedigree
(24)
Technology
(24)

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(2)
... seit 90 Tagen
(4)

Menü

Weitere Dienste

Einstellungen

Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia

Common variation in NCAN, a risk factor for bipolar disorder and schizophrenia, influences local cortical folding in schizophrenia

High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia

Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia

Effect of regular sauna on epidermal barrier function and stratum corneum water-holding capacity in vivo in humans: a controlled study

Isoform-specific increase of spastin stability by N-terminal missense variants including intragenic modifiers of SPG4 hereditary spastic paraplegia

Morphological and electrophysiological features of mature neurons in differentiated skin-derived precursor cells

Unexpected pathogenic mechanism of a novel mutation in the coding sequence of SPG4 (spastin)

POS-03.92: Early detection of prostata carcinoma: comparison of the diagnostical accuracy of complexed psa and ratio c/tpsa versus total psa and ratio F/TPSA

A new gene locus for an autosomal-dominant non-syndromic hearing impairment (DFNA 33) is situated on chromosome 13q34-qter

Motor system abnormalities in hereditary spastic paraparesis type 4 (SPG4) depend on the type of mutation in the spastin gene

A new locus for an autosomal dominant, non-syndromic hearing impairment (DFNA57) located on chromosome 19p13.2 and overlapping with DFNB15

G.P.18.10 A novel duplication in the SPAST gene associated to gender difference of hereditary spastic paraplegia

Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short‐chain acyl‐CoA dehydrogenase gene

Discordance, in a malignant hyperthermia pedigree, between in vitro contracture-test phenotypes and haplotypes for the MHS1 region on chromosome 19q12-13.2, comprising the C1840T transition in the RYR1 gene

Nerve cell lesions caused by 3‐hydroxyglutaric acid: A possible mechanism for neurodegeneration in glutaric acidaemia I

PROMM and deafness: exclusion of ZNF9 as the disease gene in DFNA18 suggests a polygenic origin of the PROMM/DM2 phenotype

Evidence for genetic heterogeneity of malignant hyperthermia susceptibility

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

Ein neuer Genort für eine autosomal-dominante, nichtsyndromale Schwerhörigkeit (DFNA33) liegt auf Chromosom 13q34-qter

Pyridoxine--responsive West syndrome and gamma-aminobutyric acid

Assessment of tubular reabsorption of sodium, glucose, phosphate and amino acids based on spot urine samples

Effects of fat-modified dairy products on blood lipids in humans in comparison with other fats

Carbohydrate-deficient glycoprotein syndrome (CDGS)--glycosylation, folding and intracellular transport of newly synthesized glycoproteins

Genetic homogeneity at the Friedreich ataxia locus on chromosome 9

Suchergebnisse filtern