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...

Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity

Nature communications, 2021-09, Vol.12 (1), p.5533-5533, Article 5533

2021

Volltextzugriff (PDF)

Confirmation of risk of cancer in blepharocheilodontic syndrome

Genetics in medicine, 2020-10, Vol.22 (10), p.1727-1728

2020

Volltextzugriff (PDF)

Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans

Nature genetics, 2011-10, Vol.43 (10), p.1026-1030

2011

Volltextzugriff (PDF)

Smith‐Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort

Clinical genetics, 2021-04, Vol.99 (4), p.519-528

2021

Volltextzugriff (PDF)

Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity

European journal of human genetics : EJHG, 2016-01, Vol.24 (1), p.44-50

2016

Volltextzugriff (PDF)

Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations

Human mutation, 2020-01, Vol.41 (1), p.222-239

2020

Volltextzugriff (PDF)

WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literature

American journal of medical genetics. Part A, 2019-07, Vol.179 (7), p.1351-1356

2019

Volltextzugriff (PDF)

Difficulties adapting to Nail‐Patella syndrome: A qualitative study of patients' perspectives

Journal of genetic counseling, 2019-10, Vol.28 (5), p.1011-1020

2019

Volltextzugriff (PDF)

Performance of meta-predictors for the classification of MED13L missense variations, implication of raw parameters

European journal of medical genetics, 2022-01, Vol.65 (1), p.104398-104398, Article 104398

2022

Volltextzugriff (PDF)

Phenotypic spectrum of SHANK2-related neurodevelopmental disorder

European journal of medical genetics, 2020-12, Vol.63 (12), p.104072-104072, Article 104072

2020

Volltextzugriff (PDF)

Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature

BMC medical genetics, 2019-06, Vol.20 (1), p.108-108, Article 108

2019

Volltextzugriff (PDF)

Executive functioning in adolescents and adults with Silver-Russell syndrome

PloS one, 2023-01, Vol.18 (1), p.e0279745-e0279745

2023

Volltextzugriff (PDF)

Growing up with a rare genetic disease: an interpretative phenomenological analysis of living with Holt-Oram syndrome

Disability and rehabilitation, 2021-07, Vol.43 (16), p.2304-2311

2021

Volltextzugriff (PDF)

Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants

European journal of human genetics : EJHG, 2019-03, Vol.27 (3), p.360-368

2019

Volltextzugriff (PDF)

Searching for secondary findings: considering actionability and preserving the right not to know

European journal of human genetics : EJHG, 2019-10, Vol.27 (10), p.1481-1484

2019

Volltextzugriff (PDF)

Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility

Human mutation, 2012-01, Vol.33 (1), p.180-188

2012

Volltextzugriff (PDF)

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability

European journal of human genetics : EJHG, 2014-02, Vol.22 (2), p.289-292

2014

Volltextzugriff (PDF)

Screening of MAMLD1 mutations in 70 children with 46,XY DSD: identification and functional analysis of two new mutations

PloS one, 2012-03, Vol.7 (3), p.e32505-e32505

2012

Volltextzugriff (PDF)

Heterozygous non-sense mutation of the MDR3 gene in familial intrahepatic cholestasis of pregnancy

The Lancet (British edition), 1999-01, Vol.353 (9148), p.210-211

1999

Volltextzugriff (PDF)

Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder

European journal of human genetics : EJHG, 2017-08, Vol.25 (8), p.1011-1014

2017

Volltextzugriff (PDF)

The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity

Human molecular genetics, 2008-07, Vol.17 (14), p.2172-2180

2008

Volltextzugriff (PDF)

Genotype–phenotype correlation in four 15q24 deleted patients identified by array‐CGH

American journal of medical genetics. Part A, 2009-12, Vol.149A (12), p.2813-2819

2009

Volltextzugriff (PDF)

Genetic testing for hereditary cancer: Effects of alexithymia and coping strategies on variations in anxiety before and after result disclosure

Psychology & health, 2011-07, Vol.26 (7), p.855-873

2011

Volltextzugriff (PDF)

1 – 25 von 161

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(142)
Mit Volltextzugriff
(144)

Publikationsform

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(2)

Menü

Weitere Dienste

Einstellungen

Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity

Confirmation of risk of cancer in blepharocheilodontic syndrome

Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans

Smith‐Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort

Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity

Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations

TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A

WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literature

Difficulties adapting to Nail‐Patella syndrome: A qualitative study of patients' perspectives

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A)

Performance of meta-predictors for the classification of MED13L missense variations, implication of raw parameters

Phenotypic spectrum of SHANK2-related neurodevelopmental disorder

Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature

Executive functioning in adolescents and adults with Silver-Russell syndrome

Growing up with a rare genetic disease: an interpretative phenomenological analysis of living with Holt-Oram syndrome

Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants

Searching for secondary findings: considering actionability and preserving the right not to know

Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability

Screening of MAMLD1 mutations in 70 children with 46,XY DSD: identification and functional analysis of two new mutations

Heterozygous non-sense mutation of the MDR3 gene in familial intrahepatic cholestasis of pregnancy

Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder

The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity

Genotype–phenotype correlation in four 15q24 deleted patients identified by array‐CGH

Genetic testing for hereditary cancer: Effects of alexithymia and coping strategies on variations in anxiety before and after result disclosure

Suchergebnisse filtern