UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 149

Sortiert nach

Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management

The Journal of pediatrics, 2017-03, Vol.182, p.363-370

2017

Link zum Volltext

Verfügbarkeit prüfen

An allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions

PloS one, 2013-02, Vol.8 (2), p.e57460

2013

Link zum Volltext

Verfügbarkeit prüfen

Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia

Nature genetics, 2002-12, Vol.32 (4), p.614-621

2002

Link zum Volltext

Verfügbarkeit prüfen

Biallelic Variants in LAMB1 Causing Hydranencephaly: A Severe Phenotype of a Rare Malformative Encephalopathy

American journal of perinatology reports, 2021-01, Vol.11 (1), p.e26-e28

2021

Link zum Volltext

Verfügbarkeit prüfen

Can Functional Polymorphisms in VEGF and MMP Predict Intraventricular Hemorrhage in Extremely Preterm Newborns?

Developmental neuroscience, 2018-01, Vol.40 (4), p.337-343

2018

Link zum Volltext

Verfügbarkeit prüfen

Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2010-07, Vol.153B (5), p.1042-1051

2010

Link zum Volltext

Verfügbarkeit prüfen

Expanding the phenotype of alveolar capillary dysplasia (ACD)

The Journal of pediatrics, 2004-11, Vol.145 (5), p.646-651

2004

Link zum Volltext

Verfügbarkeit prüfen

Clonal hematopoiesis in familial polycythemia vera suggests the involvement of multiple mutational events in the early pathogenesis of the disease

Blood, 2003-11, Vol.102 (10), p.3793-3796

2003

Link zum Volltext

Verfügbarkeit prüfen

Novel frem1-related mouse phenotypes and evidence of genetic interactions with gata4 and slit3

PloS one, 2013-03, Vol.8 (3), p.e58830-e58830

2013

Link zum Volltext

Verfügbarkeit prüfen

Management of COVID‐19 infection in organic acidemias

American journal of medical genetics. Part A, 2021-06, Vol.185 (6), p.1854-1857

2021

Link zum Volltext

Verfügbarkeit prüfen

Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay

American journal of medical genetics. Part A, 2012-02, Vol.158A (2), p.391-399

2012

Link zum Volltext

Verfügbarkeit prüfen

Premature Pubarche in Children with Pompe Disease

The Journal of pediatrics, 2015-04, Vol.166 (4), p.1075-1078.e1

2015

Link zum Volltext

Verfügbarkeit prüfen

Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity

Human genetics, 2006-09, Vol.120 (2), p.211-226

2006

Link zum Volltext

Verfügbarkeit prüfen

Thrombotic risk in congenital erythrocytosis due to up-regulated hypoxia sensing is not associated with elevated hematocrit

Haematologica (Roma), 2020-03, Vol.105 (3), p.e87

2020

Link zum Volltext

Verfügbarkeit prüfen

Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment start

Journal of neurology, 2020-10, Vol.267 (10), p.3038-3053

2020

Link zum Volltext

Verfügbarkeit prüfen

A Novel Mouse Model of Hypogonadotrophic Hypogonadism: N-Ethyl-N-Nitrosourea-Induced Gonadotropin-Releasing Hormone Receptor Gene Mutation

Molecular endocrinology (Baltimore, Md.), 2005-04, Vol.19 (4), p.972-981

2005

Link zum Volltext

Verfügbarkeit prüfen

Unusual physical features and heat stroke presentation for hypohydrotic ectodermal dysplasia

Clinical dysmorphology, 2012-01, Vol.21 (1), p.24

2012

Link zum Volltext

Verfügbarkeit prüfen

Newfoundland Rod-Cone Dystrophy, an Early-Onset Retinal Dystrophy, Is Caused by Splice-Junction Mutations in RLBP1

American journal of human genetics, 2002-04, Vol.70 (4), p.955-964

2002

Link zum Volltext

Verfügbarkeit prüfen

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity

Genetics in medicine, 2010-10, Vol.12 (10), p.641-647

2010

Link zum Volltext

Verfügbarkeit prüfen

Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study

Genetics in medicine, 2018-10, Vol.20 (10), p.1284-1294

2018

Link zum Volltext

Verfügbarkeit prüfen

Endemic Polycythemia in Russia: Mutation in the VHL Gene

Blood cells, molecules, & diseases, 2002-01, Vol.28 (1), p.57-62

2002

Link zum Volltext

Verfügbarkeit prüfen

Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice

Human molecular genetics, 2020-04, Vol.29 (6), p.1054-1054

2020

Link zum Volltext

Verfügbarkeit prüfen

Mutation of PAX9 is associated with oligodontia

Nature genetics, 2000-01, Vol.24 (1), p.18-19

2000

Link zum Volltext

Verfügbarkeit prüfen

Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease

Genetics in medicine, 2019-11, Vol.21 (11), p.2543-2551

2019

Link zum Volltext

Verfügbarkeit prüfen

Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort

Cardiology in the young, 2022-03, Vol.32 (3), p.364-373

2022

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 149

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(133)
Mit Volltextzugriff
(130)

Publikationsform

1 weiteren anzeigen...

Weniger anzeigen...

Sprache

Englisch
(147)
Japanisch
(32)
Russisch
(2)

Erscheinungsjahr

n.n

Thema

Science & Technology
(100)
Humans
(81)
Life Sciences & Biomedicine
(80)
Male
(51)
Female
(48)
Biological And Medical Sciences
(40)
Medical Sciences
(36)
Genetics & Heredity
(32)
Mutation
(24)
Pedigree
(22)
Adult
(18)
Animals
(18)
Multidisciplinary Sciences
(16)
Phenotype
(16)
Science & Technology - Other Topics
(16)
Covid-19
(15)
Sars-Cov-2 - Genetics
(15)
Aged
(14)
Child
(14)
Genetics
(14)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management

An allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions

Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia

Biallelic Variants in LAMB1 Causing Hydranencephaly: A Severe Phenotype of a Rare Malformative Encephalopathy

Can Functional Polymorphisms in VEGF and MMP Predict Intraventricular Hemorrhage in Extremely Preterm Newborns?

Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C

Expanding the phenotype of alveolar capillary dysplasia (ACD)

Clonal hematopoiesis in familial polycythemia vera suggests the involvement of multiple mutational events in the early pathogenesis of the disease

Novel frem1-related mouse phenotypes and evidence of genetic interactions with gata4 and slit3

Management of COVID‐19 infection in organic acidemias

Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay

Premature Pubarche in Children with Pompe Disease

Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity

Thrombotic risk in congenital erythrocytosis due to up-regulated hypoxia sensing is not associated with elevated hematocrit

Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment start

A Novel Mouse Model of Hypogonadotrophic Hypogonadism: N-Ethyl-N-Nitrosourea-Induced Gonadotropin-Releasing Hormone Receptor Gene Mutation

Unusual physical features and heat stroke presentation for hypohydrotic ectodermal dysplasia

Newfoundland Rod-Cone Dystrophy, an Early-Onset Retinal Dystrophy, Is Caused by Splice-Junction Mutations in RLBP1

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity

Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study

Endemic Polycythemia in Russia: Mutation in the VHL Gene

Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice

Mutation of PAX9 is associated with oligodontia

Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease

Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort

Suchergebnisse filtern