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)

XYLT1 Mutations in Desbuquois Dysplasia Type 2

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

2014

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)

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)

Intrauterine Cataract Diagnosis and Follow-up

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

2020

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)

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 245

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(214)
Mit Volltextzugriff
(219)

Publikationsform

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(1)

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

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

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

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

Intrauterine Cataract Diagnosis and Follow-up

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

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