UB Paderborn / Katalog / Suche / in CDI

Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing

American journal of human genetics, 2013-08, Vol.93 (2), p.249-263

2013

Volltextzugriff (PDF)

Pathogenicity Islands PAPI-1 and PAPI-2 Contribute Individually and Synergistically to the Virulence of Pseudomonas aeruginosa Strain PA14

Infection and Immunity, 2010-04, Vol.78 (4), p.1437-1446

2010

Volltextzugriff (PDF)

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

Orphanet journal of rare diseases, 2012-09, Vol.7 (1), p.67-67, Article 67

2012

Volltextzugriff (PDF)

Assessing the accuracy of the Modified Checklist for Autism in Toddlers: a systematic review and meta‐analysis

Developmental medicine and child neurology, 2018-11, Vol.60 (11), p.1093-1100

2018

Volltextzugriff (PDF)

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

Genetics in medicine, 2018-04, Vol.20 (4), p.435-443

2018

Volltextzugriff (PDF)

Predicting coastal algal blooms in southern California

Ecology (Durham), 2017-05, Vol.98 (5), p.1419-1433

2017

Volltextzugriff (PDF)

Cost-Effectiveness of Universal or High-Risk Screening Compared to Surveillance Monitoring in Autism Spectrum Disorder

Journal of autism and developmental disorders, 2018-09, Vol.48 (9), p.2968-2979

2018

Volltextzugriff (PDF)

Whole-genome sequencing of quartet families with autism spectrum disorder

Nature medicine, 2015-02, Vol.21 (2), p.185-191

2015

Volltextzugriff (PDF)

Recurrent microbial community types driven by nearshore and seasonal processes in coastal Southern California

Environmental microbiology, 2021-06, Vol.23 (6), p.3225-3239

2021

Volltextzugriff (PDF)

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder

JAMA : the journal of the American Medical Association, 2015-09, Vol.314 (9), p.895

2015

Volltextzugriff (PDF)

Genetic and metabolic investigations for individuals with neurodevelopmental disorders: A survey of Canadian geneticists' practices

American journal of medical genetics. Part A, 2021-06, Vol.185 (6), p.1757-1766

2021

Volltextzugriff (PDF)

Rett-like Phenotypes in HNRNPH2 -Related Neurodevelopmental Disorder

Genes, 2023-05, Vol.14 (6), p.1154

2023

Volltextzugriff (PDF)

Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG)

Journal of medical genetics, 2023-06, Vol.60 (6), p.523

2023

Volltextzugriff (PDF)

A Subtype of a Pseudomonas aeruginosa Cystic Fibrosis Epidemic Strain Exhibits Enhanced Virulence in a Murine Model of Acute Respiratory Infection

The Journal of infectious diseases, 2010-09, Vol.202 (6), p.935-942

2010

Volltextzugriff (PDF)

Perturbed hematopoiesis in individuals with germline DNMT3A overgrowth Tatton-Brown-Rahman syndrome

Haematologica (Roma), 2022-04, Vol.107 (4), p.887

2022

Volltextzugriff (PDF)

Environmental and ecological drivers of harmful algal blooms revealed by automated underwater microscopy

Limnology and oceanography, 2023-03, Vol.68 (3), p.598-615

2023

Volltextzugriff (PDF)

The diagnostic yield of genetic and metabolic investigations in syndromic and nonsyndromic patients with autism spectrum disorder, global developmental delay, or intellectual disability from a dedicated neurodevelopmental disorders genetics clinic

American journal of medical genetics. Part A, 2024-06, p.e63791

2024

Volltextzugriff (PDF)

Melatonin in Children with Autism Spectrum Disorders: Endogenous and Pharmacokinetic Profiles in Relation to Sleep

Journal of autism and developmental disorders, 2014-10, Vol.44 (10), p.2525-2535

2014

Volltextzugriff (PDF)

Compound heterozygous CACNA1H mutations associated with severe congenital amyotrophy

Channels (Austin, Tex.), 2019-01, Vol.13 (1), p.153-161

2019

Volltextzugriff (PDF)

Use of the NP-40 Detergent-Mediated Assay in Discovery of Inhibitors of β-Hematin Crystallization

Antimicrobial Agents and Chemotherapy, 2011-07, Vol.55 (7), p.3363-3369

2011

Volltextzugriff (PDF)

Marine algal toxins and their vectors in southern California cetaceans

Harmful algae, 2021-03, Vol.103, p.102000-102000, Article 102000

2021

Volltextzugriff (PDF)

High-Confidence Qualitative Identification of Organophosphorus Nerve Agent Adducts to Human Butyrylcholinesterase

Analytical chemistry (Washington), 2017-02, Vol.89 (3), p.1955-1964

2017

Volltextzugriff (PDF)

Structural Characterization and Absolute Quantification of Microcystin Peptides Using Collision-Induced and Ultraviolet Photo-Dissociation Tandem Mass Spectrometry

Journal of the American Society for Mass Spectrometry, 2018-09, Vol.29 (9), p.1812-1825

2018

Volltextzugriff (PDF)

Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature

Journal of medical genetics, 2023-12, Vol.60 (12), p.1224

2023

Volltextzugriff (PDF)

Correction to: Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

Orphanet journal of rare diseases, 2022-03, Vol.17 (1), p.143-143, Article 143

2022

Volltextzugriff (PDF)

Menü

Weitere Dienste

Einstellungen

Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing

Pathogenicity Islands PAPI-1 and PAPI-2 Contribute Individually and Synergistically to the Virulence of Pseudomonas aeruginosa Strain PA14

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

Assessing the accuracy of the Modified Checklist for Autism in Toddlers: a systematic review and meta‐analysis

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

Predicting coastal algal blooms in southern California

Cost-Effectiveness of Universal or High-Risk Screening Compared to Surveillance Monitoring in Autism Spectrum Disorder

Whole-genome sequencing of quartet families with autism spectrum disorder

Recurrent microbial community types driven by nearshore and seasonal processes in coastal Southern California

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder

Genetic and metabolic investigations for individuals with neurodevelopmental disorders: A survey of Canadian geneticists' practices

Rett-like Phenotypes in HNRNPH2 -Related Neurodevelopmental Disorder

Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG)

A Subtype of a Pseudomonas aeruginosa Cystic Fibrosis Epidemic Strain Exhibits Enhanced Virulence in a Murine Model of Acute Respiratory Infection

Perturbed hematopoiesis in individuals with germline DNMT3A overgrowth Tatton-Brown-Rahman syndrome

Environmental and ecological drivers of harmful algal blooms revealed by automated underwater microscopy

The diagnostic yield of genetic and metabolic investigations in syndromic and nonsyndromic patients with autism spectrum disorder, global developmental delay, or intellectual disability from a dedicated neurodevelopmental disorders genetics clinic

Melatonin in Children with Autism Spectrum Disorders: Endogenous and Pharmacokinetic Profiles in Relation to Sleep

Compound heterozygous CACNA1H mutations associated with severe congenital amyotrophy

Use of the NP-40 Detergent-Mediated Assay in Discovery of Inhibitors of β-Hematin Crystallization

Marine algal toxins and their vectors in southern California cetaceans

High-Confidence Qualitative Identification of Organophosphorus Nerve Agent Adducts to Human Butyrylcholinesterase

Structural Characterization and Absolute Quantification of Microcystin Peptides Using Collision-Induced and Ultraviolet Photo-Dissociation Tandem Mass Spectrometry

Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature

Correction to: Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

Suchergebnisse filtern