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...

Detection of single nucleotide and copy number variants in the Fabry disease-associated GLA gene using nanopore sequencing

Scientific reports, 2021-11, Vol.11 (1), p.22372-22372, Article 22372

2021

Volltextzugriff (PDF)

Preimplantation genetic testing for aneuploidy by microarray analysis of polar bodies in advanced maternal age: a randomized clinical trial

Human reproduction (Oxford), 2018-09, Vol.33 (9), p.1767-1776

2018

Volltextzugriff (PDF)

The decision-making process, experience, and perceptions of preimplantation genetic testing (PGT) users

Journal of assisted reproduction and genetics, 2020-08, Vol.37 (8), p.1903-1912

2020

Volltextzugriff (PDF)

Expanded clinical validation of Haploseek for comprehensive preimplantation genetic testing

Genetics in medicine, 2021-07, Vol.23 (7), p.1334-1340

2021

Volltextzugriff (PDF)

The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease

Molecular genetics & genomic medicine, 2021-05, Vol.9 (5), p.e1666-n/a

2021

Volltextzugriff (PDF)

Neonatal outcome after preimplantation genetic diagnosis

Fertility and sterility, 2014-10, Vol.102 (4), p.1016-1021

2014

Volltextzugriff (PDF)

Preimplantation genetic testing (PGT) for copy number variants of uncertain significance (CNV- VUS) in the genomic era: to do or not to do?

Journal of assisted reproduction and genetics, 2021-03, Vol.38 (3), p.719-725

2021

Volltextzugriff (PDF)

FMR1 Epigenetic Silencing Commonly Occurs in Undifferentiated Fragile X-Affected Embryonic Stem Cells

Stem cell reports, 2014-11, Vol.3 (5), p.699-706

2014

Volltextzugriff (PDF)

Effect of genetic modifiers on cerebral lesions in Fabry disease

Neurology, 2005-06, Vol.64 (12), p.2148-2150

2005

Volltextzugriff (PDF)

Uncovering the Role of Hypermethylation by CTG Expansion in Myotonic Dystrophy Type 1 Using Mutant Human Embryonic Stem Cells

Stem cell reports, 2015-08, Vol.5 (2), p.221-231

2015

Volltextzugriff (PDF)

Establishment of Homozygote Mutant Human Embryonic Stem Cells by Parthenogenesis

PloS one, 2015-10, Vol.10 (10), p.e0138893-e0138893

2015

Volltextzugriff (PDF)

PGT-M FOR DE NOVO VARIANTS: DELETION BREAKPOINT SEQUENCING

Fertility and sterility, 2023-10, Vol.120 (4), p.e52-e52

2023

Volltextzugriff (PDF)

Rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations by free fetal cell DNA analysis; Gaucher disease as a proof of principle

Molecular genetics and metabolism, 2016-02, Vol.117 (2), p.S18-S18

Altarescu, Gheona

2016

Volltextzugriff (PDF)

Marked Differences in C9orf72 Methylation Status and Isoform Expression between C9/ALS Human Embryonic and Induced Pluripotent Stem Cells

Stem cell reports, 2016-11, Vol.7 (5), p.927-940

2016

Volltextzugriff (PDF)

A safety trial of high dose glyceryl triacetate for Canavan disease

Molecular genetics and metabolism, 2011-07, Vol.103 (3), p.203-206

2011

Volltextzugriff (PDF)

Pilot study using ambroxol as a pharmacological chaperone in type 1 Gaucher disease

Blood cells, molecules, & diseases, 2013-02, Vol.50 (2), p.134-137

2013

Volltextzugriff (PDF)

Prevention is the Best Therapy: The Geneticist's Approach

Pediatric endocrinology reviews : PER, 2016-06, Vol.13 Suppl 1, p.649

Altarescu, Gheona

2016

Volltextzugriff (PDF)

Enhanced endothelium-dependent vasodilation in Fabry disease

Stroke (1970), 2001-07, Vol.32 (7), p.1559-1562

2001

Volltextzugriff (PDF)

Does elevated human chorionic gonadotropin alone trigger spontaneous ovarian hyperstimulation syndrome?

Fertility and sterility, 2008-11, Vol.90 (5), p.1869-1874

2008

Volltextzugriff (PDF)

An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease

Molecular genetics and metabolism, 2022-09, Vol.137 (1-2), p.49-61

2022

Volltextzugriff (PDF)

Achievement of Therapeutic Goals with Low-Dose Imiglucerase in Gaucher Disease: A Single-Center Experience

Advances in Hematology, 2013, Vol.2013 (2013), p.3-8

2013

Volltextzugriff (PDF)

PGD on a recombinant allele: crossover between the TSC2 gene and 'linked' markers impairs accurate diagnosis

Prenatal diagnosis, 2008-10, Vol.28 (10), p.929-933

2008

Volltextzugriff (PDF)

Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease

BMC neurology, 2002-06, Vol.2 (1), p.4-4, Article 4

2002

Volltextzugriff (PDF)

A novel RYR1 pathogenic variant − Common among Libyan Jews and associated with a broad phenotypic spectrum

Gene, 2024-11, Vol.927, p.148725, Article 148725

2024

Volltextzugriff (PDF)

DMPK hypermethylation in sperm cells of myotonic dystrophy type 1 patients

European journal of human genetics : EJHG, 2022-08, Vol.30 (8), p.980-983

2022

Volltextzugriff (PDF)

1 – 25 von 139

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(136)
Mit Volltextzugriff
(128)

Publikationsform

Sprache

Englisch
(139)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Detection of single nucleotide and copy number variants in the Fabry disease-associated GLA gene using nanopore sequencing

Preimplantation genetic testing for aneuploidy by microarray analysis of polar bodies in advanced maternal age: a randomized clinical trial

The decision-making process, experience, and perceptions of preimplantation genetic testing (PGT) users

Expanded clinical validation of Haploseek for comprehensive preimplantation genetic testing

The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease

Neonatal outcome after preimplantation genetic diagnosis

Preimplantation genetic testing (PGT) for copy number variants of uncertain significance (CNV- VUS) in the genomic era: to do or not to do?

FMR1 Epigenetic Silencing Commonly Occurs in Undifferentiated Fragile X-Affected Embryonic Stem Cells

Effect of genetic modifiers on cerebral lesions in Fabry disease

Uncovering the Role of Hypermethylation by CTG Expansion in Myotonic Dystrophy Type 1 Using Mutant Human Embryonic Stem Cells

Establishment of Homozygote Mutant Human Embryonic Stem Cells by Parthenogenesis

PGT-M FOR DE NOVO VARIANTS: DELETION BREAKPOINT SEQUENCING

Rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations by free fetal cell DNA analysis; Gaucher disease as a proof of principle

Marked Differences in C9orf72 Methylation Status and Isoform Expression between C9/ALS Human Embryonic and Induced Pluripotent Stem Cells

A safety trial of high dose glyceryl triacetate for Canavan disease

Pilot study using ambroxol as a pharmacological chaperone in type 1 Gaucher disease

Prevention is the Best Therapy: The Geneticist's Approach

Enhanced endothelium-dependent vasodilation in Fabry disease

Does elevated human chorionic gonadotropin alone trigger spontaneous ovarian hyperstimulation syndrome?

An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease

Achievement of Therapeutic Goals with Low-Dose Imiglucerase in Gaucher Disease: A Single-Center Experience

PGD on a recombinant allele: crossover between the TSC2 gene and 'linked' markers impairs accurate diagnosis

Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease

A novel RYR1 pathogenic variant − Common among Libyan Jews and associated with a broad phenotypic spectrum

DMPK hypermethylation in sperm cells of myotonic dystrophy type 1 patients

Suchergebnisse filtern