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...

A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism

PloS one, 2012-05, Vol.7 (5), p.e36458-e36458

2012

Volltextzugriff (PDF)

Hereditary sensory autonomic neuropathy caused by a mutation in dystonin

Annals of neurology, 2012-04, Vol.71 (4), p.569-572

2012

Volltextzugriff (PDF)

Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy

European journal of human genetics : EJHG, 2019-09, Vol.27 (9), p.1419-1426

2019

Volltextzugriff (PDF)

Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy

Journal of medical genetics, 2016-06, Vol.53 (6), p.389-396

2016

Volltextzugriff (PDF)

Genetic loss of SH2B3 in acute lymphoblastic leukemia

Blood, 2013-10, Vol.122 (14), p.2425-2432

2013

Volltextzugriff (PDF)

Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus

Journal of medical genetics, 2012-11, Vol.49 (11), p.708-712

2012

Volltextzugriff (PDF)

Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis

Journal of medical genetics, 2013-11, Vol.50 (11), p.733-739

2013

Volltextzugriff (PDF)

Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment

American journal of medical genetics. Part A, 2012-02, Vol.158A (2), p.298-308

2012

Volltextzugriff (PDF)

High-throughput carrier screening using TaqMan allelic discrimination

PloS one, 2013-03, Vol.8 (3), p.e59722-e59722

2013

Volltextzugriff (PDF)

PREGNANCY OUTCOMES OF EMBRYOS DIAGNOSED AS PUTATIVE MOSAIC (PM) USING PREIMPLANTATION GENETIC TESTING FOR ANEUPLOIDY (PGT-A): A MULTI-SITE BLINDED NON-SELECTION STUDY

Fertility and sterility, 2023-10, Vol.120 (4), p.e66-e66

2023

Volltextzugriff (PDF)

Variant haplophasing by long-read sequencing: proof of concept in preimplantation genetic workup and an opportunity to distinguish balanced and normal embryos

Fertility and sterility, 2021-09, Vol.116 (3), p.668-669

2021

Volltextzugriff (PDF)

PATIENT DECISION MAKING IN THE FACE OF SEGMENTAL ANEUPLOIDY: AN OBSERVATION OF THE IMPACT OF GENETIC COUNSELING ON SEGMENTAL ANEUPLOID EMBRYO DISPOSITION

Fertility and sterility, 2023-10, Vol.120 (4), p.e273-e274

2023

Volltextzugriff (PDF)

ACCURATE BREAKPOINT MAPPING USING OPTICAL GENOME MAPPING (OGM) HAS THE POTENTIAL TO INCREASE THE ACCURACY OF PREIMPLANTATION GENETIC TESTING FOR STRUCTURAL CHROMOSOMAL REARRANGEMENTS (PGT-SR)

Fertility and sterility, 2022-10, Vol.118 (4), p.e252-e252

2022

Volltextzugriff (PDF)

EVALUATION OF NO-CALL ETIOLOGIES IN PREIMPLANTATION GENETIC TESTING FOR ANEUPLOIDY (PGT-A): INFLUENCE ON GENETIC AND CLINICAL OUTCOMES FOLLOWING REBIOPSY

Fertility and sterility, 2024-10, Vol.122 (4), p.e10-e10

2024

Volltextzugriff (PDF)

PREIMPLANTATION GENETIC TESTING FOR MONOGENIC DISEASE (PGT-M) FOR MITIGATION OF REPRODUCTIVE RISK FOLLOWING OCCURRENCE OF APPARENTLY DE NOVO VARIANTS IN OFFSPRING: TECHNICAL AND CLINICAL EXPERIENCE

Fertility and sterility, 2024-10, Vol.122 (4), p.e114-e114

2024

Volltextzugriff (PDF)

A multicenter, prospective, blinded, nonselection study evaluating the predictive value of an aneuploid diagnosis using a targeted next-generation sequencing–based preimplantation genetic testing for aneuploidy assay and impact of biopsy

Fertility and sterility, 2021-03, Vol.115 (3), p.627-637

2021

Volltextzugriff (PDF)

High-throughput real-time PCR-based genotyping without DNA purification

BMC research notes, 2012-10, Vol.5 (1), p.573-573, Article 573

2012

Volltextzugriff (PDF)

On the reproductive capabilities of aneuploid human preimplantation embryos

American journal of human genetics, 2022-09, Vol.109 (9), p.1572-1581

2022

Volltextzugriff (PDF)

VALIDATION OF PREIMPLANTATION GENETIC TESTING FOR MONOGENIC DISORDERS (PGT-M) USING TARGETED NEXT GENERATION SEQUENCING

Fertility and sterility, 2023-10, Vol.120 (4), p.e50-e51

2023

Volltextzugriff (PDF)

Limits imposed by the experimental design of a large prospective non-inferiority study on PGT-A invalidate many of the conclusions

Human reproduction (Oxford), 2022-11, Vol.37 (12), p.2735-2742

2022

Volltextzugriff (PDF)

DEVELOPMENT OF CONCURRENT PREIMPLANTATION GENETIC TESTING FOR 22q11.2 DELETION SYNDROME AND ANEUPLOIDY SCREENING FROM A SINGLE TROPHECTODERM BIOPSY USING TARGETED NEXT-GENERATION SEQUENCING (TNGS)

Fertility and sterility, 2024-10, Vol.122 (4), p.e323-e323

2024

Volltextzugriff (PDF)

Key metrics and processes for validating embryo diagnostics

Fertility and sterility, 2020-07, Vol.114 (1), p.16-23

2020

Volltextzugriff (PDF)

The concordance rates of an initial trophectoderm biopsy with the rest of the embryo using PGTseq, a targeted next-generation sequencing platform for preimplantation genetic testing-aneuploidy

Fertility and sterility, 2022-02, Vol.117 (2), p.315-323

2022

Volltextzugriff (PDF)

A genomic mutational constraint map using variation in 76,156 human genomes

Nature (London), 2024-01, Vol.625 (7993), p.92-100

2024

Volltextzugriff (PDF)

BIOLOGICAL AND MOLECULAR MECHANISMS BEHIND PLOIDY ABNORMALITIES DETECTED IN BLASTOCYST STAGE EMBRYOS USING AN NGS BASED PGT-A PLATFORM WITH GENOTYPING DATA

Fertility and sterility, 2023-10, Vol.120 (4), p.e66-e66

2023

Volltextzugriff (PDF)

1 – 25 von 71

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(71)
Mit Volltextzugriff
(69)

Publikationsform

Artikel
(71)

Sprache

Englisch
(71)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(5)
... seit 90 Tagen
(6)

Menü

Weitere Dienste

Einstellungen

A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism

Hereditary sensory autonomic neuropathy caused by a mutation in dystonin

Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy

Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy

Genetic loss of SH2B3 in acute lymphoblastic leukemia

Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus

Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis

Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment

High-throughput carrier screening using TaqMan allelic discrimination

PREGNANCY OUTCOMES OF EMBRYOS DIAGNOSED AS PUTATIVE MOSAIC (PM) USING PREIMPLANTATION GENETIC TESTING FOR ANEUPLOIDY (PGT-A): A MULTI-SITE BLINDED NON-SELECTION STUDY

Variant haplophasing by long-read sequencing: proof of concept in preimplantation genetic workup and an opportunity to distinguish balanced and normal embryos

PATIENT DECISION MAKING IN THE FACE OF SEGMENTAL ANEUPLOIDY: AN OBSERVATION OF THE IMPACT OF GENETIC COUNSELING ON SEGMENTAL ANEUPLOID EMBRYO DISPOSITION

ACCURATE BREAKPOINT MAPPING USING OPTICAL GENOME MAPPING (OGM) HAS THE POTENTIAL TO INCREASE THE ACCURACY OF PREIMPLANTATION GENETIC TESTING FOR STRUCTURAL CHROMOSOMAL REARRANGEMENTS (PGT-SR)

EVALUATION OF NO-CALL ETIOLOGIES IN PREIMPLANTATION GENETIC TESTING FOR ANEUPLOIDY (PGT-A): INFLUENCE ON GENETIC AND CLINICAL OUTCOMES FOLLOWING REBIOPSY

PREIMPLANTATION GENETIC TESTING FOR MONOGENIC DISEASE (PGT-M) FOR MITIGATION OF REPRODUCTIVE RISK FOLLOWING OCCURRENCE OF APPARENTLY DE NOVO VARIANTS IN OFFSPRING: TECHNICAL AND CLINICAL EXPERIENCE

A multicenter, prospective, blinded, nonselection study evaluating the predictive value of an aneuploid diagnosis using a targeted next-generation sequencing–based preimplantation genetic testing for aneuploidy assay and impact of biopsy

High-throughput real-time PCR-based genotyping without DNA purification

On the reproductive capabilities of aneuploid human preimplantation embryos

VALIDATION OF PREIMPLANTATION GENETIC TESTING FOR MONOGENIC DISORDERS (PGT-M) USING TARGETED NEXT GENERATION SEQUENCING

Limits imposed by the experimental design of a large prospective non-inferiority study on PGT-A invalidate many of the conclusions

DEVELOPMENT OF CONCURRENT PREIMPLANTATION GENETIC TESTING FOR 22q11.2 DELETION SYNDROME AND ANEUPLOIDY SCREENING FROM A SINGLE TROPHECTODERM BIOPSY USING TARGETED NEXT-GENERATION SEQUENCING (TNGS)

Key metrics and processes for validating embryo diagnostics

The concordance rates of an initial trophectoderm biopsy with the rest of the embryo using PGTseq, a targeted next-generation sequencing platform for preimplantation genetic testing-aneuploidy

A genomic mutational constraint map using variation in 76,156 human genomes

BIOLOGICAL AND MOLECULAR MECHANISMS BEHIND PLOIDY ABNORMALITIES DETECTED IN BLASTOCYST STAGE EMBRYOS USING AN NGS BASED PGT-A PLATFORM WITH GENOTYPING DATA

Suchergebnisse filtern