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...

Re-analysis of whole-exome sequencing data reveals a novel splicing variant in the SLC2A1 in a patient with GLUT1 Deficiency Syndrome 1 accompanied by hemangioma: a case report

BMC medical genomics, 2021-07, Vol.14 (1), p.197-7, Article 197

2021

Volltextzugriff (PDF)

A Chaperone Complex Formed by HSP47, FKBP65, and BiP Modulates Telopeptide Lysyl Hydroxylation of Type I Procollagen

Journal of bone and mineral research, 2017-06, Vol.32 (6), p.1309-1319

2017

Volltextzugriff (PDF)

XYLT1 Mutations in Desbuquois Dysplasia Type 2

American journal of human genetics, 2014-03, Vol.94 (3), p.405-414

2014

Volltextzugriff (PDF)

Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

Nature genetics, 2015-01, Vol.47 (1), p.73-77

2015

Volltextzugriff (PDF)

Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience

Journal of human genetics, 2021-06, Vol.66 (6), p.585-596

2021

Volltextzugriff (PDF)

The evolution of sagittal segmental alignment of the spine during childhood

Spine (Philadelphia, Pa. 1976), 2005, Vol.30 (1), p.93-100

2005

Volltextzugriff (PDF)

Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta

American journal of human genetics, 2010-04, Vol.86 (4), p.551-559

2010

Volltextzugriff (PDF)

Craniosynostosis and Multiple Skeletal Anomalies in Humans and Zebrafish Result from a Defect in the Localized Degradation of Retinoic Acid

American journal of human genetics, 2011-11, Vol.89 (5), p.595-606

2011

Volltextzugriff (PDF)

AUTS2 Syndrome in a 68-year-old female: Natural history and further delineation of the phenotype

American journal of medical genetics. Part A, 2016-12, Vol.170A (12), p.3231-3236

2016

Volltextzugriff (PDF)

Real-world evidence in achondroplasia: considerations for a standardized data set

Orphanet journal of rare diseases, 2023-06, Vol.18 (1), p.166-166, Article 166

2023

Volltextzugriff (PDF)

Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum

The Cleft palate-craniofacial journal, 2022-09, Vol.59 (9), p.1114-1124

2022

Volltextzugriff (PDF)

Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding the Spectrum of Autosomal-Recessive ALX-Related Frontonasal Dysplasia

American journal of human genetics, 2010-05, Vol.86 (5), p.789-796

2010

Volltextzugriff (PDF)

Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center

Frontiers in genetics, 2024, Vol.15, p.1347474-1347474

2024

Volltextzugriff (PDF)

Expanding the clinical and mutational spectrum of the Ehlers–Danlos syndrome, dermatosparaxis type

Genetics in medicine, 2016-09, Vol.18 (9), p.882-891

2016

Volltextzugriff (PDF)

Intrauterine Cataract Diagnosis and Follow-up

Turk oftalmoloji gazetesi, 2020-08, Vol.50 (4), p.245-247

2020

Volltextzugriff (PDF)

Congenital contractural arachnodactyly (Beals syndrome)

Orphanet journal of rare diseases, 2006-06, Vol.1 (1), p.20-20, Article 20

2006

Volltextzugriff (PDF)

A possible founder mutation in FZD6 gene in a Turkish family with autosomal recessive nail dysplasia

BMC medical genetics, 2019-01, Vol.20 (1), p.15-10, Article 15

2019

Volltextzugriff (PDF)

Molecular Genetics and Genetic Testing in Myotonic Dystrophy Type 1

BioMed research international, 2013-01, Vol.2013 (2013), p.1-13

2013

Volltextzugriff (PDF)

Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome

American journal of medical genetics. Part A, 2015-07, Vol.167A (7), p.1501-1509

2015

Volltextzugriff (PDF)

Implementation of High Resolution Whole Genome Array CGH in the Prenatal Clinical Setting: Advantages, Challenges, and Review of the Literature

BioMed research international, 2013-01, Vol.2013 (2013), p.1-14

2013

Volltextzugriff (PDF)

A new line method; A direct test in spinal muscular atrophy screening for DBS

Molecular genetics & genomic medicine, 2023-12, Vol.11 (12), p.e2270-n/a

2023

Volltextzugriff (PDF)

Further characterization of ATP6V0A2-related autosomal recessive cutis laxa

Human genetics, 2012-11, Vol.131 (11), p.1761-1773

2012

Volltextzugriff (PDF)

Obstacles and expectations of rare disease patients and their families in Türkiye: ISTisNA project survey results

Frontiers in public health, 2023-01, Vol.10, p.1049349-1049349

2023

Volltextzugriff (PDF)

1 – 25 von 255

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(224)
Mit Volltextzugriff
(223)

Publikationsform

Sprache

Englisch
(251)
Türkisch
(5)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

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

Menü

Weitere Dienste

Einstellungen

Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort

Re-analysis of whole-exome sequencing data reveals a novel splicing variant in the SLC2A1 in a patient with GLUT1 Deficiency Syndrome 1 accompanied by hemangioma: a case report

A Chaperone Complex Formed by HSP47, FKBP65, and BiP Modulates Telopeptide Lysyl Hydroxylation of Type I Procollagen

Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study

XYLT1 Mutations in Desbuquois Dysplasia Type 2

Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience

The evolution of sagittal segmental alignment of the spine during childhood

Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta

Craniosynostosis and Multiple Skeletal Anomalies in Humans and Zebrafish Result from a Defect in the Localized Degradation of Retinoic Acid

AUTS2 Syndrome in a 68-year-old female: Natural history and further delineation of the phenotype

Real-world evidence in achondroplasia: considerations for a standardized data set

Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum

Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding the Spectrum of Autosomal-Recessive ALX-Related Frontonasal Dysplasia

Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center

Expanding the clinical and mutational spectrum of the Ehlers–Danlos syndrome, dermatosparaxis type

Intrauterine Cataract Diagnosis and Follow-up

Congenital contractural arachnodactyly (Beals syndrome)

A possible founder mutation in FZD6 gene in a Turkish family with autosomal recessive nail dysplasia

Molecular Genetics and Genetic Testing in Myotonic Dystrophy Type 1

Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome

Implementation of High Resolution Whole Genome Array CGH in the Prenatal Clinical Setting: Advantages, Challenges, and Review of the Literature

A new line method; A direct test in spinal muscular atrophy screening for DBS

Further characterization of ATP6V0A2-related autosomal recessive cutis laxa

Obstacles and expectations of rare disease patients and their families in Türkiye: ISTisNA project survey results

Suchergebnisse filtern