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...

CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism

The journal of clinical endocrinology and metabolism, 2017-12, Vol.102 (12), p.4534-4540

2017

Volltextzugriff (PDF)

Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation

Journal of medical genetics, 2022-04, Vol.59 (4), p.366-369

2022

Volltextzugriff (PDF)

Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes

Molecular genetics and metabolism reports, 2018-12, Vol.17, p.19-21

2018

Volltextzugriff (PDF)

Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance

Brain (London, England : 1878), 2007-09, Vol.130 (9), p.2258-2266

2007

Volltextzugriff (PDF)

When the right (Drug) should be left: Prenatal drug exposure and heterotaxy syndrome

Birth defects research. A Clinical and molecular teratology, 2016-07, Vol.106 (7), p.573-579

2016

Volltextzugriff (PDF)

Expression Quantitative Trait Methylation Analysis Identifies Whole Blood Molecular Footprint in Fetal Alcohol Spectrum Disorder (FASD)

International journal of molecular sciences, 2023-04, Vol.24 (7), p.6601

2023

Volltextzugriff (PDF)

Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability

American journal of human genetics, 2016-01, Vol.98 (1), p.202-209

2016

Volltextzugriff (PDF)

Beare-Stevenson Syndrome: Two Dutch Patients With Cerebral Abnormalities

Pediatric neurology, 2011-04, Vol.44 (4), p.303-307

2011

Volltextzugriff (PDF)

Clinical utility gene card for: Proximal spinal muscular atrophy (SMA) - update 2015

European journal of human genetics : EJHG, 2015-11, Vol.23 (11), p.1-3

2015

Volltextzugriff (PDF)

Opposite effects on facial morphology due to gene dosage sensitivity

Human genetics, 2014-09, Vol.133 (9), p.1117-1125

2014

Volltextzugriff (PDF)

Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis

European journal of human genetics : EJHG, 2011-05, Vol.19 (5), p.513-519

2011

Volltextzugriff (PDF)

Quantification of SMN protein in leucocytes from spinal muscular atrophy patients: effects of treatment with valproic acid

Journal of neurology, neurosurgery and psychiatry, 2011-08, Vol.82 (8), p.850-852

2011

Volltextzugriff (PDF)

Morphologic abnormalities in 2-year-old children born after in vitro fertilization/intracytoplasmic sperm injection with preimplantation genetic screening: follow-up of a randomized controlled trial

Fertility and sterility, 2013-02, Vol.99 (2), p.408-413.e4

2013

Volltextzugriff (PDF)

Clinical utility gene card for: proximal spinal muscular atrophy

European journal of human genetics : EJHG, 2012-06, Vol.20 (6), p.713-713

2012

Volltextzugriff (PDF)

Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in the Netherlands

Neuromuscular disorders : NMD, 2013-06, Vol.23 (6), p.461-468

2013

Volltextzugriff (PDF)

Atenolol versus Losartan in Children and Young Adults with Marfan's Syndrome

The New England journal of medicine, 2014-11, Vol.371 (22), p.2061-2071

2014

Volltextzugriff (PDF)

Dysmorphic features in 2-year-old IVF/ICSI offspring

Early human development, 2012-10, Vol.88 (10), p.823-829

2012

Volltextzugriff (PDF)

Congenital heart defects in spinal muscular atrophy type I: A clinical report of two siblings and a review of the literature

American journal of medical genetics. Part A, 2008-03, Vol.146A (6), p.740-744

2008

Volltextzugriff (PDF)

DNA analysis of AHI1 , NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands

European journal of medical genetics, 2008-01, Vol.51 (1), p.24-34

2008

Volltextzugriff (PDF)

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis

American journal of human genetics, 2017-01, Vol.100 (1), p.105-116

2017

Volltextzugriff (PDF)

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

Journal of medical genetics, 2018-02, Vol.55 (2), p.104-113

2018

Volltextzugriff (PDF)

Complete and partial XYLT1 deletion in a patient with neonatal short limb skeletal dysplasia

American journal of medical genetics. Part A, 2016-02, Vol.170A (2), p.510-514

2016

Volltextzugriff (PDF)

Predictors of Rapid Aortic Root Dilation and Referral for Aortic Surgery in Marfan Syndrome

Pediatric cardiology, 2018-10, Vol.39 (7), p.1453-1461

2018

Volltextzugriff (PDF)

Epigenotype–phenotype correlations in Silver–Russell syndrome

Journal of medical genetics, 2010-11, Vol.47 (11), p.760-768

2010

Volltextzugriff (PDF)

1 – 25 von 60

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(56)
Mit Volltextzugriff
(53)

Publikationsform

Artikel
(58)
Berichte
(2)

Sprache

Englisch
(58)
Niederländisch
(2)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism

Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation

Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes

Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance

When the right (Drug) should be left: Prenatal drug exposure and heterotaxy syndrome

Expression Quantitative Trait Methylation Analysis Identifies Whole Blood Molecular Footprint in Fetal Alcohol Spectrum Disorder (FASD)

Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability

Beare-Stevenson Syndrome: Two Dutch Patients With Cerebral Abnormalities

Clinical utility gene card for: Proximal spinal muscular atrophy (SMA) - update 2015

Opposite effects on facial morphology due to gene dosage sensitivity

Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis

Quantification of SMN protein in leucocytes from spinal muscular atrophy patients: effects of treatment with valproic acid

Morphologic abnormalities in 2-year-old children born after in vitro fertilization/intracytoplasmic sperm injection with preimplantation genetic screening: follow-up of a randomized controlled trial

Clinical utility gene card for: proximal spinal muscular atrophy

Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in the Netherlands

Atenolol versus Losartan in Children and Young Adults with Marfan's Syndrome

Dysmorphic features in 2-year-old IVF/ICSI offspring

Congenital heart defects in spinal muscular atrophy type I: A clinical report of two siblings and a review of the literature

DNA analysis of AHI1 , NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

Complete and partial XYLT1 deletion in a patient with neonatal short limb skeletal dysplasia

Predictors of Rapid Aortic Root Dilation and Referral for Aortic Surgery in Marfan Syndrome

Epigenotype–phenotype correlations in Silver–Russell syndrome

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

Suchergebnisse filtern