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...

Lysinuric protein intolerance: Reviewing concepts on a multisystem disease

American journal of medical genetics. Part C, Seminars in medical genetics, 2011-02, Vol.157C (1), p.54-62

2011

Volltextzugriff (PDF)

Mowat–Wilson syndrome: Facial phenotype changing with age: Study of 19 Italian patients and review of the literature

American journal of medical genetics. Part A, 2009-03, Vol.149A (3), p.417-426

2009

Volltextzugriff (PDF)

Cystathionine β-synthase mutations in homocystinuria

Human mutation, 1999, Vol.13 (5), p.362-375

1999

Volltextzugriff (PDF)

SLC7A7 , encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance

Nature genetics, 1999-03, Vol.21 (3), p.297-301

1999

Volltextzugriff (PDF)

Structure of the SLC7A7 Gene and Mutational Analysis of Patients Affected by Lysinuric Protein Intolerance

American journal of human genetics, 2000-01, Vol.66 (1), p.92-99

2000

Volltextzugriff (PDF)

Escherichia coli Lpt Transenvelope Protein Complex for Lipopolysaccharide Export Is Assembled via Conserved Structurally Homologous Domains

Journal of Bacteriology, 2013-03, Vol.195 (5), p.1100-1108

2013

Volltextzugriff (PDF)

In vitro studies on the mechanisms exerted by a mixture of lactobacillus plantarum alone or combined with berberine and fermented red rice on cholesterol homeostasis

Atherosclerosis, 2022-08, Vol.355, p.174

2022

Volltextzugriff (PDF)

Alström syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene

Clinical genetics, 2004-02, Vol.65 (2), p.156-157

2004

Volltextzugriff (PDF)

Novel Structure of the Conserved Gram-Negative Lipopolysaccharide Transport Protein A and Mutagenesis Analysis

Journal of molecular biology, 2008-07, Vol.380 (3), p.476-488

2008

Volltextzugriff (PDF)

A 68-bp insertion found in a homocystinuric patient is a common variant and is skipped by alternative splicing of the cystathionine beta-synthase mRNA

American journal of human genetics, 1996-12, Vol.59 (6), p.1391-1393

1996

Volltextzugriff (PDF)

The C677T mutation of the 5,10-methylenetetrahydrofolate reductase gene is a moderate risk factor for spina bifida in Italy

Journal of medical genetics, 1998-12, Vol.35 (12), p.1009-1013

1998

Volltextzugriff (PDF)

How many loci for the His475Tyr polymorphism of the glutamate carboxypeptidase II gene?

American journal of medical genetics, 2003-12, Vol.123A (3), p.314-315

2003

Volltextzugriff (PDF)

Relaxation of Insulin-like Growth Factor 2 Imprinting and Discordant Methylation at KvDMR1 in Two First Cousins Affected by Beckwith-Wiedemann and Klippel-Trenaunay-Weber Syndromes

American journal of human genetics, 2000-03, Vol.66 (3), p.841-847

2000

Volltextzugriff (PDF)

The molecular basis of homocystinuria due to cystathionine β-synthase deficiency in Italian families, and report of four novel mutations

American journal of human genetics, 1995-06, Vol.56 (6), p.1324-1333

1995

Volltextzugriff (PDF)

The Gene Encoding a Cationic Amino Acid Transporter (SLC7A4) Maps to the Region Deleted in the Velocardiofacial Syndrome

Genomics (San Diego, Calif.), 1998-04, Vol.49 (2), p.230-236

1998

Volltextzugriff (PDF)

SLC7A8, a Gene Mapping within the Lysinuric Protein Intolerance Critical Region, Encodes a New Member of the Glycoprotein-Associated Amino Acid Transporter Family

Genomics (San Diego, Calif.), 1999-12, Vol.62 (2), p.297-303

1999

Volltextzugriff (PDF)

Mild phenotype associated with an interstitial deletion of the long arm of chromosome 1

Journal of medical genetics, 1998-12, Vol.35 (12), p.1047-1049

1998

Volltextzugriff (PDF)

Arginine transport through system y+L in cultured human fibroblasts: normal phenotype of cells from LPI subjects

American Journal of Physiology: Cell Physiology, 2000-12, Vol.279 (6), p.C1829-C1837

2000

Volltextzugriff (PDF)

Homocysteine response to methionine challenge in four obligate heterozygotes for homocystinuria and relationship with cystathionineβ‐synthase mutations

Journal of inherited metabolic disease, 1996-01, Vol.19 (3), p.351-356

1996

Volltextzugriff (PDF)

Molecular analysis of patients affected by homocystinuria due to cystathionine β‐synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11

Journal of inherited metabolic disease, 1995-03, Vol.18 (2), p.211-214

1995

Volltextzugriff (PDF)

Lysinuric Protein Intolerance: Reviewing Concepts on a Multisystem Disease: Newborn Screening and Inborn Errors of Metabolism

American journal of medical genetics. Part C, Seminars in medical genetics, 2011, Vol.157 (1), p.54-62

2011

Volltextzugriff (PDF)

Combined immunodeficiency phenotype associated with inappropriate spontaneous and activation‐induced apoptosis

Clinical and experimental immunology, 1997-06, Vol.108 (3), p.484-489

1997

Volltextzugriff (PDF)

Feasibility of prenatal diagnosis of lysinuric protein intolerance by linkage analysis: a case report

Prenatal diagnosis, 1999-08, Vol.19 (8), p.771-773

1999

Volltextzugriff (PDF)

Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of Δ7-sterol reductase in Italy and report of three novel mutations

European journal of human genetics : EJHG, 1999-12, Vol.7 (8), p.937-940

1999

Volltextzugriff (PDF)

Genetic homogeneity of lysinuric protein intolerance

European journal of human genetics : EJHG, 1998-11, Vol.6 (6), p.612-615

1998

Volltextzugriff (PDF)

1 – 25 von 84

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(66)
Mit Volltextzugriff
(66)

Publikationsform

Artikel
(83)
Berichte
(1)

Sprache

1 weiteren anzeigen...

Weniger anzeigen...

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Lysinuric protein intolerance: Reviewing concepts on a multisystem disease

Mowat–Wilson syndrome: Facial phenotype changing with age: Study of 19 Italian patients and review of the literature

Cystathionine β-synthase mutations in homocystinuria

SLC7A7 , encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance

Structure of the SLC7A7 Gene and Mutational Analysis of Patients Affected by Lysinuric Protein Intolerance

Escherichia coli Lpt Transenvelope Protein Complex for Lipopolysaccharide Export Is Assembled via Conserved Structurally Homologous Domains

In vitro studies on the mechanisms exerted by a mixture of lactobacillus plantarum alone or combined with berberine and fermented red rice on cholesterol homeostasis

Alström syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene

Novel Structure of the Conserved Gram-Negative Lipopolysaccharide Transport Protein A and Mutagenesis Analysis

A 68-bp insertion found in a homocystinuric patient is a common variant and is skipped by alternative splicing of the cystathionine beta-synthase mRNA

The C677T mutation of the 5,10-methylenetetrahydrofolate reductase gene is a moderate risk factor for spina bifida in Italy

How many loci for the His475Tyr polymorphism of the glutamate carboxypeptidase II gene?

Relaxation of Insulin-like Growth Factor 2 Imprinting and Discordant Methylation at KvDMR1 in Two First Cousins Affected by Beckwith-Wiedemann and Klippel-Trenaunay-Weber Syndromes

The molecular basis of homocystinuria due to cystathionine β-synthase deficiency in Italian families, and report of four novel mutations

The Gene Encoding a Cationic Amino Acid Transporter (SLC7A4) Maps to the Region Deleted in the Velocardiofacial Syndrome

SLC7A8, a Gene Mapping within the Lysinuric Protein Intolerance Critical Region, Encodes a New Member of the Glycoprotein-Associated Amino Acid Transporter Family

Mild phenotype associated with an interstitial deletion of the long arm of chromosome 1

Arginine transport through system y+L in cultured human fibroblasts: normal phenotype of cells from LPI subjects

Homocysteine response to methionine challenge in four obligate heterozygotes for homocystinuria and relationship with cystathionineβ‐synthase mutations

Molecular analysis of patients affected by homocystinuria due to cystathionine β‐synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11

Lysinuric Protein Intolerance: Reviewing Concepts on a Multisystem Disease: Newborn Screening and Inborn Errors of Metabolism

Combined immunodeficiency phenotype associated with inappropriate spontaneous and activation‐induced apoptosis

Feasibility of prenatal diagnosis of lysinuric protein intolerance by linkage analysis: a case report

Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of Δ7-sterol reductase in Italy and report of three novel mutations

Genetic homogeneity of lysinuric protein intolerance

Suchergebnisse filtern