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...

Clinical exome sequencing for genetic identification of rare Mendelian disorders

JAMA : the journal of the American Medical Association, 2014-11, Vol.312 (18), p.1880

2014

Volltextzugriff (PDF)

ACMG clinical laboratory standards for next-generation sequencing

Genetics in medicine, 2013-09, Vol.15 (9), p.733-747

2013

Volltextzugriff (PDF)

Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia

JAMA neurology, 2014-10, Vol.71 (10), p.1237

2014

Volltextzugriff (PDF)

Patient re-contact after revision of genomic test results: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2019-04, Vol.21 (4), p.769-771

2019

Volltextzugriff (PDF)

Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory

Genetics in medicine, 2014-07, Vol.16 (7), p.510-515

2014

Volltextzugriff (PDF)

Incidental detection of acquired variants in germline genetic and genomic testing: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2021-07, Vol.23 (7), p.1179-1184

2021

Volltextzugriff (PDF)

De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay

American journal of human genetics, 2015-03, Vol.96 (3), p.498-506

2015

Volltextzugriff (PDF)

Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2019-06, Vol.21 (6), p.1267-1270

2019

Volltextzugriff (PDF)

Cowries graze verongid sponges on Caribbean reefs

Coral reefs, 2015-06, Vol.34 (2), p.663-663

2015

Volltextzugriff (PDF)

De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing

BMC medical genetics, 2014-05, Vol.15 (1), p.49-49, Article 49

2014

Volltextzugriff (PDF)

Moving toward more consistency in variant classification and clinical action

Genetics in medicine, 2023-01, Vol.25 (1), p.12-15

2023

Volltextzugriff (PDF)

Clinical Exome Reanalysis: Current Practice and Beyond

Molecular diagnosis & therapy, 2021-09, Vol.25 (5), p.529-536

2021

Volltextzugriff (PDF)

Contrasting features of urea cycle disorders in human patients and knockout mouse models

Molecular genetics and metabolism, 2008-01, Vol.93 (1), p.7-14

2008

Volltextzugriff (PDF)

CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2020-08, Vol.22 (8), p.1288-1295

2020

Volltextzugriff (PDF)

Confidential genetic testing and electronic health records: A survey of current practices among Huntington disease testing centers

Molecular genetics & genomic medicine, 2020-01, Vol.8 (1), p.e1026-n/a

2020

Volltextzugriff (PDF)

Effects of a Mutation in the HSPE1 Gene Encoding the Mitochondrial Co-chaperonin HSP10 and Its Potential Association with a Neurological and Developmental Disorder

Frontiers in molecular biosciences, 2016-10, Vol.3, p.65-65

2016

Volltextzugriff (PDF)

Points to consider in the practice of postmortem genetic testing: A statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2023-05, Vol.25 (5), p.100017-100017, Article 100017

2023

Volltextzugriff (PDF)

Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2023-02, Vol.25 (2), p.100316-100316, Article 100316

2023

Volltextzugriff (PDF)

Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2023-08, Vol.25 (8), p.100867-100867, Article 100867

2023

Volltextzugriff (PDF)

OncoKids: A Comprehensive Next-Generation Sequencing Panel for Pediatric Malignancies

The Journal of molecular diagnostics : JMD, 2018-11, Vol.20 (6), p.765-776

2018

Volltextzugriff (PDF)

Points to consider when assessing relationships (or suspecting misattributed relationships) during family-based clinical genomic testing: a statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2020-08, Vol.22 (8), p.1285-1287

2020

Volltextzugriff (PDF)

Clinical exome sequencing in neurogenetic and neuropsychiatric disorders

Annals of the New York Academy of Sciences, 2016-02, Vol.1366 (1), p.49-60

2016

Volltextzugriff (PDF)

1 – 25 von 116

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(104)
Mit Volltextzugriff
(103)

Publikationsform

1 weiteren anzeigen...

Weniger anzeigen...

Sprache

Englisch
(116)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(2)

Menü

Weitere Dienste

Einstellungen

Clinical exome sequencing for genetic identification of rare Mendelian disorders

ACMG clinical laboratory standards for next-generation sequencing

Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia

Patient re-contact after revision of genomic test results: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG)

Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory

A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders

Incidental detection of acquired variants in germline genetic and genomic testing: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay

Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach

Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG)

Cowries graze verongid sponges on Caribbean reefs

De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing

Moving toward more consistency in variant classification and clinical action

Clinical Exome Reanalysis: Current Practice and Beyond

Contrasting features of urea cycle disorders in human patients and knockout mouse models

CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Confidential genetic testing and electronic health records: A survey of current practices among Huntington disease testing centers

Effects of a Mutation in the HSPE1 Gene Encoding the Mitochondrial Co-chaperonin HSP10 and Its Potential Association with a Neurological and Developmental Disorder

Points to consider in the practice of postmortem genetic testing: A statement of the American College of Medical Genetics and Genomics (ACMG)

A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders

Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG)

Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG)

OncoKids: A Comprehensive Next-Generation Sequencing Panel for Pediatric Malignancies

Points to consider when assessing relationships (or suspecting misattributed relationships) during family-based clinical genomic testing: a statement of the American College of Medical Genetics and Genomics (ACMG)

Clinical exome sequencing in neurogenetic and neuropsychiatric disorders

Suchergebnisse filtern