UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 282

Sortiert nach

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome

European journal of human genetics : EJHG, 2009-05, Vol.17 (5), p.611-619

2009

Link zum Volltext

Verfügbarkeit prüfen

Association of In Vitro Fertilization with Beckwith-Wiedemann Syndrome and Epigenetic Alterations of LIT1 and H19

American journal of human genetics, 2003-01, Vol.72 (1), p.156-160

2003

Link zum Volltext

Verfügbarkeit prüfen

Beckwith-Wiedemann syndrome in a child with Chiari I malformation. Case report

Journal of neurosurgery, 2005-08, Vol.103 (2 Suppl), p.172

2005

Link zum Volltext

Verfügbarkeit prüfen

Association between Beckwith-Wiedemann syndrome and assisted reproductive technology: A case series of 19 patients

Fertility and sterility, 2005-02, Vol.83 (2), p.349-354

2005

Link zum Volltext

Verfügbarkeit prüfen

Epigenetic Alterations of H19 and LIT1 Distinguish Patients with Beckwith-Wiedemann Syndrome with Cancer and Birth Defects

American journal of human genetics, 2002-03, Vol.70 (3), p.604-611

2002

Link zum Volltext

Verfügbarkeit prüfen

Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome

American journal of human genetics, 2004-04, Vol.74 (4), p.715-720

2004

Link zum Volltext

Verfügbarkeit prüfen

No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome

European journal of human genetics : EJHG, 2012-01, Vol.20 (1), p.119-121

2012

Link zum Volltext

Verfügbarkeit prüfen

Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus

Human genetics, 2006-03, Vol.119 (1-2), p.179-184

2006

Link zum Volltext

Verfügbarkeit prüfen

The 5' end of the KCNQ10T1 gene is hypomethylated in the Beckwith-Wiedemann syndrome

Human genetics, 2002-07, Vol.111 (1), p.105-107

2002

Link zum Volltext

Verfügbarkeit prüfen

Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome

Nature genetics, 2012-07, Vol.44 (7), p.788-792

2012

Link zum Volltext

Verfügbarkeit prüfen

Imprinting Status of 11p15 Genes in Beckwith–Wiedemann Syndrome Patients with CDKN1C Mutations

Genomics (San Diego, Calif.), 2001-06, Vol.74 (3), p.370-376

2001

Link zum Volltext

Verfügbarkeit prüfen

Microdeletion of LIT1 in Familial Beckwith-Wiedemann Syndrome

American journal of human genetics, 2004-11, Vol.75 (5), p.844-849

2004

Link zum Volltext

Verfügbarkeit prüfen

The cell type-specific IGF2 expression during early human development correlates to the pattern of overgrowth and neoplasia in the Beckwith- Wiedemann syndrome

The American journal of pathology, 1994-10, Vol.145 (4), p.802-817

1994

Link zum Volltext

Verfügbarkeit prüfen

Genetic linkage of Beckwith-Wiedemann syndrome to 11p15

American journal of human genetics, 1989-05, Vol.44 (5), p.720-723

1989

Link zum Volltext

Verfügbarkeit prüfen

Ectopic spleen and left-sided vena cava in Beckwith–Wiedemann syndrome

Computerized medical imaging and graphics, 2002-05, Vol.26 (3), p.177-180

2002

Link zum Volltext

Verfügbarkeit prüfen

Taste after reduction of the tongue in Beckwith–Wiedemann syndrome

British journal of oral & maxillofacial surgery, 2006-02, Vol.44 (1), p.49-51

2006

Link zum Volltext

Verfügbarkeit prüfen

Nonmalignant renal disease in pediatric patients with Beckwith-Wiedemann syndrome

American journal of roentgenology (1976), 1998-09, Vol.171 (3), p.733

1998

Link zum Volltext

Verfügbarkeit prüfen

Beckwith-Wiedemann Syndrome: Potassium Ascorbate with Ribose Therapy in a Syndrome with High Neoplastic Risk

Anticancer research, 2011-11, Vol.31 (11), p.3973-3976

2011

Link zum Volltext

Verfügbarkeit prüfen

Epigenetics and Assisted Reproductive Technology: A Call for Investigation

American journal of human genetics, 2004-04, Vol.74 (4), p.599-609

2004

Link zum Volltext

Verfügbarkeit prüfen

Children with Idiopathic Hemihypertrophy and Beckwith-Wiedemann Syndrome Have Different Constitutional Epigenotypes Associated with Wilms Tumor

American journal of human genetics, 2005-11, Vol.77 (5), p.887-891

2005

Link zum Volltext

Verfügbarkeit prüfen

Prenatally Detected Cystic Adrenal Mass Associated with Beckwith-Wiedemann Syndrome

Fetal diagnosis and therapy, 2004-11, Vol.19 (6), p.465-469

2004

Link zum Volltext

Verfügbarkeit prüfen

A Third Case of Cardiac Neoplasm in a Fetus with Beckwith-Wiedemann Syndrome: Epicardial Angiofibroma

Fetal diagnosis and therapy, 2005-01, Vol.20 (1), p.44-47

2005

Link zum Volltext

Verfügbarkeit prüfen

Wilms' tumor in a patient with Beckwith-Wiedemann syndrome: onset detected with 3-month serial sonography

American journal of roentgenology (1976), 1993-01, Vol.160 (1), p.139

1993

Link zum Volltext

Verfügbarkeit prüfen

Determination of KCNQ1OT1 and H19 methylation levels in BWS and SRS patients using methylation-sensitive high-resolution melting analysis

European journal of human genetics : EJHG, 2009-04, Vol.17 (4), p.467-473

2009

Link zum Volltext

Verfügbarkeit prüfen

Beckwith-Wiedemann syndrome and virilizing cortical adrenal tumor in a child

Journal of pediatric surgery, 2000-08, Vol.35 (8), p.1269-1271

2000

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 282

Suche als RSS-Feed

Aktive Filter

KollektionIngentaConnect Journals

KollektionWK Lippincott Williams & Wilkins–Connect here FIRST to enable access

KollektionWiley-Blackwell Journals

ThemaMedical Sciences

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(260)
Mit Volltextzugriff
(242)

Publikationsform

Sprache

Englisch
(282)
Japanisch
(42)
Deutsch
(1)

Erscheinungsjahr

n.n

Thema

Biological And Medical Sciences
(277)
Humans
(259)
Science & Technology
(241)
Life Sciences & Biomedicine
(236)
Female
(144)
Male
(141)
Medical Genetics
(78)
Genetics & Heredity
(71)
Beckwith-Wiedemann Syndrome - Genetics
(58)
Gynecology. Andrology. Obstetrics
(57)
Infant
(54)
Infant, Newborn
(52)
Child
(50)
Oncology
(49)
Adult
(48)
Tumors
(48)
Child, Preschool
(46)
Pregnancy
(45)
Genomic Imprinting
(43)

14 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome

Association of In Vitro Fertilization with Beckwith-Wiedemann Syndrome and Epigenetic Alterations of LIT1 and H19

Beckwith-Wiedemann syndrome in a child with Chiari I malformation. Case report

Association between Beckwith-Wiedemann syndrome and assisted reproductive technology: A case series of 19 patients

Epigenetic Alterations of H19 and LIT1 Distinguish Patients with Beckwith-Wiedemann Syndrome with Cancer and Birth Defects

Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome

No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome

Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus

The 5' end of the KCNQ10T1 gene is hypomethylated in the Beckwith-Wiedemann syndrome

Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome

Imprinting Status of 11p15 Genes in Beckwith–Wiedemann Syndrome Patients with CDKN1C Mutations

Microdeletion of LIT1 in Familial Beckwith-Wiedemann Syndrome

The cell type-specific IGF2 expression during early human development correlates to the pattern of overgrowth and neoplasia in the Beckwith- Wiedemann syndrome

Genetic linkage of Beckwith-Wiedemann syndrome to 11p15

Ectopic spleen and left-sided vena cava in Beckwith–Wiedemann syndrome

Taste after reduction of the tongue in Beckwith–Wiedemann syndrome

Nonmalignant renal disease in pediatric patients with Beckwith-Wiedemann syndrome

Beckwith-Wiedemann Syndrome: Potassium Ascorbate with Ribose Therapy in a Syndrome with High Neoplastic Risk

Epigenetics and Assisted Reproductive Technology: A Call for Investigation

Children with Idiopathic Hemihypertrophy and Beckwith-Wiedemann Syndrome Have Different Constitutional Epigenotypes Associated with Wilms Tumor

Prenatally Detected Cystic Adrenal Mass Associated with Beckwith-Wiedemann Syndrome

A Third Case of Cardiac Neoplasm in a Fetus with Beckwith-Wiedemann Syndrome: Epicardial Angiofibroma

Wilms' tumor in a patient with Beckwith-Wiedemann syndrome: onset detected with 3-month serial sonography

Determination of KCNQ1OT1 and H19 methylation levels in BWS and SRS patients using methylation-sensitive high-resolution melting analysis

Beckwith-Wiedemann syndrome and virilizing cortical adrenal tumor in a child

Aktive Filter

Suchergebnisse filtern