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...

Characterization of the Beckwith‐Wiedemann spectrum: Diagnosis and management

American journal of medical genetics. Part C, Seminars in medical genetics, 2019-12, Vol.181 (4), p.693-708

2019

Volltextzugriff (PDF)

Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol

The Journal of pediatrics, 2016-09, Vol.176, p.142-149.e1

2016

Volltextzugriff (PDF)

Recommendations of the Scientific Committee of the Italian Beckwith–Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndrome

European journal of medical genetics, 2016-01, Vol.59 (1), p.52-64

2016

Volltextzugriff (PDF)

Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups

American journal of medical genetics. Part A, 2016-09, Vol.170A (9), p.2248-2260

2016

Volltextzugriff (PDF)

Familial Beckwith‐Wiedemann syndrome in a multigenerational family: Forty years of careful phenotyping

American journal of medical genetics. Part A, 2023-02, Vol.191 (2), p.348-356

2023

Volltextzugriff (PDF)

Prevalence of beckwith-wiedemann syndrome in North West of Italy

American journal of medical genetics. Part A, 2013-10, Vol.161A (10), p.2481-2486

2013

Volltextzugriff (PDF)

Beckwith–Wiedemann syndrome with multiple hepatic and cutaneous hemangiomas in a female patient of Albanian origin: Diagnostic and therapeutic considerations

American journal of medical genetics. Part A, 2024-01, Vol.194 (1), p.88-93

2024

Volltextzugriff (PDF)

Development of disease-specific growth charts for Korean children with Beckwith-Wiedemann syndrome

Clinical genetics, 2024-05, Vol.105 (5), p.533-542

2024

Volltextzugriff (PDF)

Molecular Basis and Diagnostic Approach to Isolated and Syndromic Lateralized Overgrowth in Childhood

The Journal of pediatrics, 2024-11, Vol.274, p.114177, Article 114177

2024

Volltextzugriff (PDF)

Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome

Journal of medical genetics, 2021-03, Vol.58 (3), p.178-184

2021

Volltextzugriff (PDF)

Prenatal correction of IGF2 to rescue the growth phenotypes in mouse models of Beckwith-Wiedemann and Silver-Russell syndromes

Cell reports (Cambridge), 2021-02, Vol.34 (6), p.108729-108729, Article 108729

2021

Volltextzugriff (PDF)

Beckwith-Wiedemann syndrome

European journal of human genetics : EJHG, 2010-01, Vol.18 (1), p.8-14

2010

Volltextzugriff (PDF)

CDKN1C mutations: two sides of the same coin

Trends in molecular medicine, 2014-11, Vol.20 (11), p.614-622

2014

Volltextzugriff (PDF)

Fetal growth patterns in Beckwith-Wiedemann syndrome

Clinical genetics, 2016-07, Vol.90 (1), p.21-27

2016

Volltextzugriff (PDF)

Isolated‐ and Beckwith‐Wiedemann syndrome related‐ lateralised overgrowth (hemihypertrophy): Clinical and molecular correlations in 94 individuals

Clinical genetics, 2021-09, Vol.100 (3), p.292-297

2021

Volltextzugriff (PDF)

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome

European journal of human genetics : EJHG, 2016-10, Vol.24 (10), p.1377-1387

2016

Volltextzugriff (PDF)

Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith–Wiedemann syndrome

Journal of medical genetics, 2016-01, Vol.53 (1), p.53-61

2016

Volltextzugriff (PDF)

Concurrent Hepatoblastoma and Wilms Tumor Leading to Diagnosis of Beckwith-Wiedemann Syndrome

Journal of pediatric hematology/oncology, 2023-05, Vol.45 (4), p.e525-e529

2023

Volltextzugriff (PDF)

A patient with multilocus imprinting disturbance involving hypomethylation at 11p15 and 14q32, and phenotypic features of Beckwith‐Wiedemann and Temple syndromes

American journal of medical genetics. Part A, 2022-06, Vol.188 (6), p.1896-1903

2022

Volltextzugriff (PDF)

Diagnosis and management of the phenotypic spectrum of twins with Beckwith‐Wiedemann syndrome

American journal of medical genetics. Part A, 2019-07, Vol.179 (7), p.1139-1147

2019

Volltextzugriff (PDF)

Wilms tumour in Beckwith-Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelines

European journal of human genetics : EJHG, 2017-09, Vol.25 (9), p.1031-1039

2017

Volltextzugriff (PDF)

Clinical and molecular genetic features of Beckwith–Wiedemann syndrome associated with assisted reproductive technologies

Human reproduction (Oxford), 2009-03, Vol.24 (3), p.741-747

2009

Volltextzugriff (PDF)

Hepatoblastoma in molecularly defined, congenital diseases

American journal of medical genetics. Part A, 2022-09, Vol.188 (9), p.2527-2535

2022

Volltextzugriff (PDF)

Imprinting disorders in children conceived with assisted reproductive technology in Sweden

Fertility and sterility, 2024-10, Vol.122 (4), p.706-714

2024

Volltextzugriff (PDF)

1 – 25 von 440

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(381)
Mit Volltextzugriff
(327)

Publikationsform

Sprache

6 weitere anzeigen...

Weniger anzeigen...

Erscheinungsjahr

n.n

Thema

Humans
(397)
Science & Technology
(347)
Life Sciences & Biomedicine
(344)
Beckwith-Wiedemann Syndrome - Diagnosis
(274)
Female
(245)
Beckwith-Wiedemann Syndrome
(198)
Beckwith-Wiedemann Syndrome - Genetics
(188)
Male
(183)
Genetics & Heredity
(139)
Infant, Newborn
(137)
Infant
(114)
Pediatrics
(108)
Pregnancy
(106)
Biological And Medical Sciences
(101)
Medical Sciences
(101)
Beckwith-Wiedemann Syndrome - Complications
(93)
Dna Methylation
(86)
Genomic Imprinting
(81)
Child
(79)
Adult
(76)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Characterization of the Beckwith‐Wiedemann spectrum: Diagnosis and management

Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol

Recommendations of the Scientific Committee of the Italian Beckwith–Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndrome

Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups

Familial Beckwith‐Wiedemann syndrome in a multigenerational family: Forty years of careful phenotyping

Prevalence of beckwith-wiedemann syndrome in North West of Italy

Beckwith–Wiedemann syndrome with multiple hepatic and cutaneous hemangiomas in a female patient of Albanian origin: Diagnostic and therapeutic considerations

Development of disease-specific growth charts for Korean children with Beckwith-Wiedemann syndrome

Molecular Basis and Diagnostic Approach to Isolated and Syndromic Lateralized Overgrowth in Childhood

Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome

Prenatal correction of IGF2 to rescue the growth phenotypes in mouse models of Beckwith-Wiedemann and Silver-Russell syndromes

Beckwith-Wiedemann syndrome

CDKN1C mutations: two sides of the same coin

Fetal growth patterns in Beckwith-Wiedemann syndrome

Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

Isolated‐ and Beckwith‐Wiedemann syndrome related‐ lateralised overgrowth (hemihypertrophy): Clinical and molecular correlations in 94 individuals

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome

Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith–Wiedemann syndrome

Concurrent Hepatoblastoma and Wilms Tumor Leading to Diagnosis of Beckwith-Wiedemann Syndrome

A patient with multilocus imprinting disturbance involving hypomethylation at 11p15 and 14q32, and phenotypic features of Beckwith‐Wiedemann and Temple syndromes

Diagnosis and management of the phenotypic spectrum of twins with Beckwith‐Wiedemann syndrome

Wilms tumour in Beckwith-Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelines

Clinical and molecular genetic features of Beckwith–Wiedemann syndrome associated with assisted reproductive technologies

Hepatoblastoma in molecularly defined, congenital diseases

Imprinting disorders in children conceived with assisted reproductive technology in Sweden

Suchergebnisse filtern