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...

Alport syndrome: impact of digenic inheritance in patients management

Clinical genetics, 2017-07, Vol.92 (1), p.34-44

2017

Volltextzugriff (PDF)

Novel FOXG1 mutations associated with the congenital variant of Rett syndrome

Journal of medical genetics, 2010-01, Vol.47 (1), p.49-53

2010

Volltextzugriff (PDF)

CKAP2L mutation confirms the diagnosis of Filippi syndrome

Clinical genetics, 2018-05, Vol.93 (5), p.1109-1110

2018

Volltextzugriff (PDF)

Early-onset seizure variant of Rett syndrome: Definition of the clinical diagnostic criteria

Brain & development (Tokyo. 1979), 2010-01, Vol.32 (1), p.17-24

2010

Volltextzugriff (PDF)

Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics

Clinical genetics, 2012-10, Vol.82 (4), p.395-403

2012

Volltextzugriff (PDF)

Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant)

Brain & development (Tokyo. 1979), 2009-03, Vol.31 (3), p.208-216

2009

Volltextzugriff (PDF)

9q31.1q31.3 deletion in two patients with similar clinical features: A newly recognized microdeletion syndrome?

American journal of medical genetics. Part A, 2014-03, Vol.164A (3), p.685-690

2014

Volltextzugriff (PDF)

2q24–q31 Deletion: Report of a case and review of the literature

European journal of medical genetics, 2007-01, Vol.50 (1), p.21-32

2007

Volltextzugriff (PDF)

Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

European journal of medical genetics, 2012-06, Vol.55 (6), p.404-413

2012

Volltextzugriff (PDF)

Association between primary open-angle glaucoma (POAG) and WDR36 sequence variance in Italian families affected by POAG

British journal of ophthalmology, 2011-05, Vol.95 (5), p.624-626

2011

Volltextzugriff (PDF)

Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH)

European journal of endocrinology, 2018-01, Vol.178 (1), p.23-32

2018

Volltextzugriff (PDF)

A 9.3 Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb

European journal of medical genetics, 2009-03, Vol.52 (2), p.131-133

2009

Volltextzugriff (PDF)

A 2.6 Mb deletion of 6q24.3–25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears

European journal of medical genetics, 2007-07, Vol.50 (4), p.315-321

2007

Volltextzugriff (PDF)

The Italian XLMR bank: a clinical and molecular database

Human mutation, 2007-01, Vol.28 (1), p.13-18

2007

Volltextzugriff (PDF)

A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upper lip and asymmetric dysmorphic ears

European journal of medical genetics, 2007-07, Vol.50 (4), p.315-321

2007

Volltextzugriff (PDF)

Alterations of Ballistic Movements in Epileptic Patients with Phenytoin Intoxication

Epilepsia (Copenhagen), 1992-03, Vol.33 (2), p.376-388

1992

Volltextzugriff (PDF)

Effects of expected perturbations on the velocity control of fast arm abduction movements

Experimental neurology, 1988-09, Vol.101 (3), p.313-326

1988

Volltextzugriff (PDF)

P01.02: May the Silver‐Russell syndrome be suspected in utero by ultrasound?

Ultrasound in obstetrics & gynecology, 2012-09, Vol.40 (S1), p.171-171

2012

Volltextzugriff (PDF)

Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome

American journal of medical genetics. Part A, 2014-07, Vol.164A (7), p.1666-1676

2014

Volltextzugriff (PDF)

Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families

Nephrology, dialysis, transplantation, 2006-03, Vol.21 (3), p.665-671

2006

Volltextzugriff (PDF)

A 9.3 Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb: Emerging Microdeletion and Microduplication Syndromes

European journal of medical genetics, 2009, Vol.52 (2-3), p.131-133

2009

Volltextzugriff (PDF)

CNS abnormalities in retinoblastoma patients

Acta ophthalmologica (Oxford, England), 2011-09, Vol.89 (s248), p.0-0

2011

Volltextzugriff (PDF)

Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations

Journal of human genetics, 2006-03, Vol.51 (3), p.209-216

2006

Volltextzugriff (PDF)

FOXG1 Is Responsible for the Congenital Variant of Rett Rett Syndrome

American journal of human genetics, 2008-07, Vol.83 (1), p.89-93

2008

Volltextzugriff (PDF)

Family burden in bipolar disorders: Results from the Italian Mood Disorders Study (IMDS)

Epidemiologia e psichiatria sociale, 2009-06, Vol.18 (2), p.137-146

2009

Volltextzugriff (PDF)

1 – 25 von 553

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(487)
Mit Volltextzugriff
(322)

Publikationsform

1 weiteren anzeigen...

Weniger anzeigen...

Sprache

1 weiteren anzeigen...

Weniger anzeigen...

Erscheinungsjahr

n.n

Thema

Science & Technology
(375)
Life Sciences & Biomedicine
(311)
Biological And Medical Sciences
(200)
Fundamental And Applied Biological Sciences. Psychology
(169)
Agriculture
(166)
Horticulture
(158)
Humans
(130)
Food Industries
(113)
Fruit And Vegetable Industries
(109)
Agronomy. Soil Science And Plant Productions
(97)
Female
(72)
Male
(66)
Economic Plant Physiology
(52)
Growth And Development
(48)
Adult
(45)
Fructification, Ripening. Postharvest Physiology
(42)
Medical Sciences
(42)
Technology
(40)
Fruit Quality
(39)
Physical Sciences
(37)

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(2)
... seit 90 Tagen
(3)

Menü

Weitere Dienste

Einstellungen

Alport syndrome: impact of digenic inheritance in patients management

Novel FOXG1 mutations associated with the congenital variant of Rett syndrome

CKAP2L mutation confirms the diagnosis of Filippi syndrome

Early-onset seizure variant of Rett syndrome: Definition of the clinical diagnostic criteria

Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics

Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant)

9q31.1q31.3 deletion in two patients with similar clinical features: A newly recognized microdeletion syndrome?

2q24–q31 Deletion: Report of a case and review of the literature

Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

Association between primary open-angle glaucoma (POAG) and WDR36 sequence variance in Italian families affected by POAG

Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH)

A 9.3 Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb

A 2.6 Mb deletion of 6q24.3–25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears

The Italian XLMR bank: a clinical and molecular database

A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upper lip and asymmetric dysmorphic ears

Alterations of Ballistic Movements in Epileptic Patients with Phenytoin Intoxication

Effects of expected perturbations on the velocity control of fast arm abduction movements

P01.02: May the Silver‐Russell syndrome be suspected in utero by ultrasound?

Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome

Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families

A 9.3 Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb: Emerging Microdeletion and Microduplication Syndromes

CNS abnormalities in retinoblastoma patients

Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations

FOXG1 Is Responsible for the Congenital Variant of Rett Rett Syndrome

Family burden in bipolar disorders: Results from the Italian Mood Disorders Study (IMDS)

Suchergebnisse filtern