UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 100

Sortiert nach

Rare Disease Registries Are Key to Evidence-Based Personalized Medicine: Highlighting the European Experience

Frontiers in endocrinology (Lausanne), 2022-03, Vol.13, p.832063-832063

2022

Link zum Volltext

Verfügbarkeit prüfen

How longitudinal observational studies can guide screening strategy for rare diseases

Journal of inherited metabolic disease, 2022-09, Vol.45 (5), p.889-901

2022

Link zum Volltext

Verfügbarkeit prüfen

One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome

Orphanet journal of rare diseases, 2021-01, Vol.16 (1), p.42-42, Article 42

2021

Link zum Volltext

Verfügbarkeit prüfen

Gene therapy in the putamen for curing AADC deficiency and Parkinson's disease

EMBO molecular medicine, 2021-09, Vol.13 (9), p.e14712-n/a

2021

Link zum Volltext

Verfügbarkeit prüfen

U-IMD: the first Unified European registry for inherited metabolic diseases

Orphanet journal of rare diseases, 2021-02, Vol.16 (1), p.95-95, Article 95

2021

Link zum Volltext

Verfügbarkeit prüfen

An AI-based segmentation and analysis pipeline for high-field MR monitoring of cerebral organoids

Scientific reports, 2023-12, Vol.13 (1), p.21231-21231, Article 21231

2023

Link zum Volltext

Verfügbarkeit prüfen

QDPR homologues in Danio rerio regulate melanin synthesis, early gliogenesis, and glutamine homeostasis

PloS one, 2019-04, Vol.14 (4), p.e0215162-e0215162

2019

Link zum Volltext

Verfügbarkeit prüfen

Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1

International journal of molecular sciences, 2020-11, Vol.21 (22), p.8578

2020

Link zum Volltext

Verfügbarkeit prüfen

Neurotransmitters … it is all about communication

Journal of inherited metabolic disease, 2024-05, Vol.47 (3), p.409-410

2024

Link zum Volltext

Verfügbarkeit prüfen

Generation of an induced pluripotent stem cell line (DHMCi009-A) from an individual with TUBB2A tubulinopathy

Stem cell research, 2022-10, Vol.64, p.102879-102879, Article 102879

2022

Link zum Volltext

Verfügbarkeit prüfen

Generation of an iPSC line from a patient with GTP cyclohydrolase 1 (GCH1) deficiency: HDMC0061i-GCH1

Stem cell research, 2017-04, Vol.20 (C), p.38-41

2017

Link zum Volltext

Verfügbarkeit prüfen

Autoantibodies to Folate Receptors in the Cerebral Folate Deficiency Syndrome

The New England journal of medicine, 2005-05, Vol.352 (19), p.1985-1991

2005

Link zum Volltext

Verfügbarkeit prüfen

Generation of an induced pluripotent stem cell line (DHMCi008-A) from an individual with TUBA1A tubulinopathy

Stem cell research, 2022-07, Vol.62, p.102818-102818, Article 102818

2022

Link zum Volltext

Verfügbarkeit prüfen

aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment

Computational and structural biotechnology journal, 2023-01, Vol.21, p.1077-1083

2023

Link zum Volltext

Verfügbarkeit prüfen

Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder

Journal of neurodevelopmental disorders, 2024-04, Vol.16 (1), p.21-15, Article 21

2024

Link zum Volltext

Verfügbarkeit prüfen

Generation of 2 iPSC clones from a patient with DNAJC12 deficiency: DHMCi003-A and DHMCi003-B

Stem cell research, 2019-04, Vol.36, p.101402-101402, Article 101402

2019

Link zum Volltext

Verfügbarkeit prüfen

Unmet Needs of Parents of Children with Urea Cycle Disorders

Children (Basel), 2022-05, Vol.9 (5), p.712

2022

Link zum Volltext

Verfügbarkeit prüfen

Patient‐initiated conference focuses on bridging gaps between patients, clinicians and scientists in the field of rare neurotransmitter‐related disorders

Journal of inherited metabolic disease, 2024-05, Vol.47 (3), p.411-412

2024

Link zum Volltext

Verfügbarkeit prüfen

Dyskinesias as a Limiting Factor in the Treatment of Segawa Disease

Pediatric neurology, 2012-06, Vol.46 (6), p.404-406

2012

Link zum Volltext

Verfügbarkeit prüfen

Navigating the rare neurotransmitter disease diagnosis: Insights from patients and health care professionals

Journal of inherited metabolic disease, 2024-05, Vol.47 (3), p.413-416

2024

Link zum Volltext

Verfügbarkeit prüfen

Inherited Disorders of Neurotransmitters: Classification and Practical Approaches for Diagnosis and Treatment

Neuropediatrics, 2019-02, Vol.50 (1), p.2

2019

Link zum Volltext

Verfügbarkeit prüfen

Dopamine-Responsive Growth-Hormone Deficiency and Central Hypothyroidism in Sepiapterin Reductase Deficiency

JIMD Reports, Volume 24, 2015-01, Vol.24, p.109-113

2015

Link zum Volltext

Verfügbarkeit prüfen

Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease

Journal of neurology, 2011-12, Vol.258 (12), p.2155-2162

2011

Link zum Volltext

Verfügbarkeit prüfen

An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia

Journal of inherited metabolic disease, 2012-11, Vol.35 (6), p.963-973

2012

Link zum Volltext

Verfügbarkeit prüfen

Patient with an autosomal‐recessive MBTPS1‐linked phenotype and clinical features of Silver–Russell syndrome

American journal of medical genetics. Part A, 2020-11, Vol.182 (11), p.2727-2730

2020

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 100

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(94)
Mit Volltextzugriff
(98)

Publikationsform

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(2)

Menü

Weitere Dienste

Einstellungen

Rare Disease Registries Are Key to Evidence-Based Personalized Medicine: Highlighting the European Experience

How longitudinal observational studies can guide screening strategy for rare diseases

One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome

Gene therapy in the putamen for curing AADC deficiency and Parkinson's disease

U-IMD: the first Unified European registry for inherited metabolic diseases

An AI-based segmentation and analysis pipeline for high-field MR monitoring of cerebral organoids

QDPR homologues in Danio rerio regulate melanin synthesis, early gliogenesis, and glutamine homeostasis

Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1

Neurotransmitters … it is all about communication

Generation of an induced pluripotent stem cell line (DHMCi009-A) from an individual with TUBB2A tubulinopathy

Generation of an iPSC line from a patient with GTP cyclohydrolase 1 (GCH1) deficiency: HDMC0061i-GCH1

Autoantibodies to Folate Receptors in the Cerebral Folate Deficiency Syndrome

Generation of an induced pluripotent stem cell line (DHMCi008-A) from an individual with TUBA1A tubulinopathy

aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment

Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder

Generation of 2 iPSC clones from a patient with DNAJC12 deficiency: DHMCi003-A and DHMCi003-B

Unmet Needs of Parents of Children with Urea Cycle Disorders

Patient‐initiated conference focuses on bridging gaps between patients, clinicians and scientists in the field of rare neurotransmitter‐related disorders

Dyskinesias as a Limiting Factor in the Treatment of Segawa Disease

Navigating the rare neurotransmitter disease diagnosis: Insights from patients and health care professionals

Inherited Disorders of Neurotransmitters: Classification and Practical Approaches for Diagnosis and Treatment

Dopamine-Responsive Growth-Hormone Deficiency and Central Hypothyroidism in Sepiapterin Reductase Deficiency

Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease

An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia

Patient with an autosomal‐recessive MBTPS1‐linked phenotype and clinical features of Silver–Russell syndrome

Suchergebnisse filtern