UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 187

Sortiert nach

Mutations in the Lysosomal Enzyme–Targeting Pathway and Persistent Stuttering

The New England journal of medicine, 2010-02, Vol.362 (8), p.677-685

2010

Volltextzugriff (PDF)

A Genome-Wide Association Study Uncovers a Genetic Locus Associated with Thoracic-to-Hip Ratio in Koreans

PloS one, 2015-12, Vol.10 (12), p.e0145220-e0145220

2015

Volltextzugriff (PDF)

Biallelic inheritance in a single Pakistani family with intellectual disability implicates new candidate gene RDH14

Scientific reports, 2021-11, Vol.11 (1), p.23113-11, Article 23113

2021

Volltextzugriff (PDF)

Genetic approaches to understanding the causes of stuttering

Journal of neurodevelopmental disorders, 2011-12, Vol.3 (4), p.374-380

2011

Volltextzugriff (PDF)

Development of novel noninvasive prenatal testing protocol for whole autosomal recessive disease using picodroplet digital PCR

Scientific reports, 2016-12, Vol.6 (1), p.37153-37153, Article 37153

2016

Volltextzugriff (PDF)

Whole exome analysis reveals a novel missense PNPLA1 variant that causes autosomal recessive congenital ichthyosis in a Pakistani family

Journal of dermatological science, 2016-04, Vol.82 (1), p.46-48

2016

Volltextzugriff (PDF)

A novel homozygous PTH1R variant identified through whole-exome sequencing further expands the clinical spectrum of primary failure of tooth eruption in a consanguineous Saudi family

Archives of oral biology, 2016-07, Vol.67, p.28-33

2016

Volltextzugriff (PDF)

Novel compound heterozygous and homozygous variants of laminin subunit β3 gene underlie non‐Herlitz junctional epidermolysis bullosa in two paternal half‐brothers from Saudi Arabia

Congenital anomalies, 2019-05, Vol.59 (3), p.99-101

2019

Volltextzugriff (PDF)

Characterization of a mutation commonly associated with persistent stuttering: evidence for a founder mutation

Journal of human genetics, 2011-01, Vol.56 (1), p.80-82

2011

Volltextzugriff (PDF)

Genetics of speech and language disorders

Annual review of genomics and human genetics, 2011-01, Vol.12 (1), p.145-164

2011

Volltextzugriff (PDF)

Evaluation of the association between polymorphisms at the DRD2 locus and stuttering

Journal of human genetics, 2011-06, Vol.56 (6), p.472-473

2011

Volltextzugriff (PDF)

A role for inherited metabolic deficits in persistent developmental stuttering

Molecular genetics and metabolism, 2012-11, Vol.107 (3), p.276-280

2012

Volltextzugriff (PDF)

Genetic Polymorphisms of Selected DNA Repair Genes, Estrogen and Progesterone Receptor Status, and Breast Cancer Risk

Clinical cancer research, 2005-06, Vol.11 (12), p.4620-4626

2005

Volltextzugriff (PDF)

Whole exome sequencing identified a novel missense mutation in EPM2A underlying Lafora disease in a Pakistani family

Seizure (London, England), 2017-10, Vol.51, p.200-203

2017

Volltextzugriff (PDF)

A mutation in the major autophagy gene, WIPI2, associated with global developmental abnormalities

Brain (London, England : 1878), 2019-05, Vol.142 (5), p.1242-1254

2019

Volltextzugriff (PDF)

Genetics of Speech and Language Disorders 1

Annual review of genomics and human genetics, 2011-09, Vol.12, p.145-164

2011

Volltextzugriff (PDF)

Genetic Studies of Rheumatoid Arthritis: Progress and Challenges

Journal of rheumatic diseases, 2015-10, Vol.22 (5), p.274-281

Changsoo Kang

2015

Volltextzugriff (PDF)

Genetic Studies of Rheumatoid Arthritis: Progress and Challenges

대한류마티스학회지, 2015, 22(5), , pp.274-281

Kang, Changsoo

2015

Volltextzugriff (PDF)

One-step noninvasive prenatal testing (NIPT) for autosomal recessive homozygous point mutations using digital PCR

Scientific reports, 2018-02, Vol.8 (1), p.2877-8, Article 2877

2018

Volltextzugriff (PDF)

A functional variant in FCRL3 , encoding Fc receptor-like 3, is associated with rheumatoid arthritis and several autoimmunities

Nature genetics, 2005-05, Vol.37 (5), p.478-485

2005

Volltextzugriff (PDF)

Analysis of Mannose 6-Phosphate Uncovering Enzyme Mutations Associated with Persistent Stuttering

The Journal of biological chemistry, 2011-11, Vol.286 (46), p.39786-39793

2011

Volltextzugriff (PDF)

Two missense mutations in GPNMB cause autosomal recessive amyloidosis cutis dyschromica in the consanguineous pakistani families

Genes & Genomics, 2021, 43(5), , pp.471-478

2021

Volltextzugriff (PDF)

Identification of Novel Mutation in CNGA3 gene by Whole-Exome Sequencing and In-Silico Analyses for Genotype-Phenotype Assessment with Autosomal Recessive Achromatopsia in Pakistani families

Journal of the Pakistan Medical Association, 2019-02, Vol.69 (2), p.183-189

2019

Volltextzugriff (PDF)

A Genome-Wide Association Study Uncovers a Genetic Locus Associated with Thoracic-to-Hip Ratio in Koreans: e0145220

PloS one, 2015-12, Vol.10 (12)

2015

Volltextzugriff (PDF)

Protein nanoarray on Prolinker™ surface constructed by atomic force microscopy dip-pen nanolithography for analysis of protein interaction

Proteomics (Weinheim), 2006-02, Vol.6 (4), p.1094-1103

2006

Volltextzugriff (PDF)

1 – 25 von 187

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(154)
Mit Volltextzugriff
(177)

Publikationsform

Sprache

Englisch
(174)
Japanisch
(15)
Koreanisch
(13)

Erscheinungsjahr

n.n

Thema

Science & Technology
(113)
Life Sciences & Biomedicine
(80)
Humans
(60)
Male
(43)
Female
(41)
Middle Aged
(32)
Aged
(24)
Technology
(21)
Adult
(19)
Biological And Medical Sciences
(15)
Physical Sciences
(15)
Plant Sciences
(15)
Risk Factors
(15)
Genomes
(14)
Mutation
(14)
Medical Sciences
(13)
Atrial Fibrillation
(12)
General & Internal Medicine
(12)
Medicine, General & Internal
(12)
Science & Technology - Other Topics
(12)

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(1)
... seit 90 Tagen
(4)

Menü

Weitere Dienste

Einstellungen

Mutations in the Lysosomal Enzyme–Targeting Pathway and Persistent Stuttering

A Genome-Wide Association Study Uncovers a Genetic Locus Associated with Thoracic-to-Hip Ratio in Koreans

Biallelic inheritance in a single Pakistani family with intellectual disability implicates new candidate gene RDH14

Genetic approaches to understanding the causes of stuttering

Development of novel noninvasive prenatal testing protocol for whole autosomal recessive disease using picodroplet digital PCR

Whole exome analysis reveals a novel missense PNPLA1 variant that causes autosomal recessive congenital ichthyosis in a Pakistani family

A novel homozygous PTH1R variant identified through whole-exome sequencing further expands the clinical spectrum of primary failure of tooth eruption in a consanguineous Saudi family

Novel compound heterozygous and homozygous variants of laminin subunit β3 gene underlie non‐Herlitz junctional epidermolysis bullosa in two paternal half‐brothers from Saudi Arabia

Characterization of a mutation commonly associated with persistent stuttering: evidence for a founder mutation

Genetics of speech and language disorders

Evaluation of the association between polymorphisms at the DRD2 locus and stuttering

A role for inherited metabolic deficits in persistent developmental stuttering

Genetic Polymorphisms of Selected DNA Repair Genes, Estrogen and Progesterone Receptor Status, and Breast Cancer Risk

Whole exome sequencing identified a novel missense mutation in EPM2A underlying Lafora disease in a Pakistani family

A mutation in the major autophagy gene, WIPI2, associated with global developmental abnormalities

Genetics of Speech and Language Disorders 1

Genetic Studies of Rheumatoid Arthritis: Progress and Challenges

Genetic Studies of Rheumatoid Arthritis: Progress and Challenges

One-step noninvasive prenatal testing (NIPT) for autosomal recessive homozygous point mutations using digital PCR

A functional variant in FCRL3 , encoding Fc receptor-like 3, is associated with rheumatoid arthritis and several autoimmunities

Analysis of Mannose 6-Phosphate Uncovering Enzyme Mutations Associated with Persistent Stuttering

Two missense mutations in GPNMB cause autosomal recessive amyloidosis cutis dyschromica in the consanguineous pakistani families

Identification of Novel Mutation in CNGA3 gene by Whole-Exome Sequencing and In-Silico Analyses for Genotype-Phenotype Assessment with Autosomal Recessive Achromatopsia in Pakistani families

A Genome-Wide Association Study Uncovers a Genetic Locus Associated with Thoracic-to-Hip Ratio in Koreans: e0145220

Protein nanoarray on Prolinker™ surface constructed by atomic force microscopy dip-pen nanolithography for analysis of protein interaction

Suchergebnisse filtern