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...

Alopecia‐mental retardation syndrome: Molecular genetics of a rare neuro‐dermal disorder

Annals of human genetics, 2021-09, Vol.85 (5), p.147-154

2021

Volltextzugriff (PDF)

Secured Dynamic Request Scheduling and Optimal CSP Selection for Analyzing Cloud Service Performance Using Intelligent Approaches

IEEE access, 2023, Vol.11, p.140914-140933

2023

Volltextzugriff (PDF)

Exome sequence analysis identifies a homozygous, pathogenic, frameshift variant in the MAN2B1 gene underlying clinical variant of α-mannosidosis

Frontiers in genetics, 2024-08, Vol.15, p.1421943

2024

Volltextzugriff (PDF)

Analysis of a non‐lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons

Clinical genetics, 2023-10, Vol.104 (4), p.491-496

2023

Volltextzugriff (PDF)

Mutation screening of multiple Pakistani MCPH families revealed novel and recurrent protein‐truncating mutations of ASPM

Biotechnology and applied biochemistry, 2022-12, Vol.69 (6), p.2296-2303

2022

Volltextzugriff (PDF)

Machine Learning Approach to Classification of Online Users by Exploiting Information Seeking Behavior

IEEE access, 2024, Vol.12, p.53234-53249

2024

Volltextzugriff (PDF)

An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codon

Gene, 2022-07, Vol.833, p.146582-146582, Article 146582

2022

Volltextzugriff (PDF)

Current updates on genetic spectrum of usher syndrome

Nucleosides, nucleotides & nucleic acids, 2024-05, p.1-24

2024

Volltextzugriff (PDF)

Comment on homozygosity mapping of a consanguineous Pakistani family affected with oculocutaneous albinism to Tyrosinase gene

International journal of ophthalmology, 2017-05

2017

Volltextzugriff (PDF)

Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanisms

Frontiers in neurology, 2023-05, Vol.14, p.1168307-1168307

2023

Volltextzugriff (PDF)

The molecular genetics of UV-Sensitive syndrome: A rare dermal anomaly

Journal of the Pakistan Medical Association, 2021-10, Vol.71 (10), p.2391-2396

2021

Volltextzugriff (PDF)

Pakistan Genetic Mutation Database (PGMD); A centralized Pakistani mutome data source

European journal of medical genetics, 2018-04, Vol.61 (4), p.204-208

2018

Volltextzugriff (PDF)

UHPLC, ATR-FTIR analysis of Nymphoides indica rhizome extract and determination of antioxidant & antibiofilm potential

Main group chemistry, 2022-01, Vol.21 (1), p.157-166

2022

Volltextzugriff (PDF)

Development and Evaluation of Essential Oil-Based Nanoemulgel Formulation for the Treatment of Oral Bacterial Infections

Gels, 2023-03, Vol.9 (3), p.252

2023

Volltextzugriff (PDF)

A GHRHR founder mutation causes isolated growth hormone deficiency type IV in a consanguineous Pakistani family

Frontiers in endocrinology (Lausanne), 2023-03, Vol.14, p.1066182-1066182

2023

Volltextzugriff (PDF)

A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family

BMC medical genetics, 2017-04, Vol.18 (1), p.42-42, Article 42

2017

Volltextzugriff (PDF)

A novel homozygous TSGA10 missense variant causes acephalic spermatozoa syndrome in a Pakistani family

Basic and clinical andrology, 2024-02, Vol.34 (1), p.4-4, Article 4

2024

Volltextzugriff (PDF)

Computational analyses of RPIA gene mutation causing Ribose-5-phosphate isomerase deficiency: a rarest known metabolic disorder in humans

Journal of Taibah University for Science, 2023-12, Vol.17 (1)

2023

Volltextzugriff (PDF)

A clinical and molecular characterization of a Pakistani family with multicentric osteolysis, nodulosis and arthropathy (MONA) syndrome

Bone Reports, 2024-09, Vol.22, p.101789, Article 101789

2024

Volltextzugriff (PDF)

Lumateperone Interact with S-Protein of Ebola Virus and TIM-1 of Human Cell Membrane: Insights from Computational Studies

Applied sciences, 2022-09, Vol.12 (17), p.8820

2022

Volltextzugriff (PDF)

Mutation Analysis of a Pakistani Oculocutaneous Albinism Family Identifies a Novel Splice Site Defect in OCA2 Gene

Pakistan journal of zoology, 2022-06, Vol.54 (3), p.1215

2022

Volltextzugriff (PDF)

Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly

Genes, 2023-04, Vol.14 (4), p.869

2023

Volltextzugriff (PDF)

In Silico Analysis of the L-2-Hydroxyglutarate Dehydrogenase Gene Mutations and Their Biological Impact on Disease Etiology

Genes, 2022-04, Vol.13 (4), p.698

2022

Volltextzugriff (PDF)

CHONDROMATOUS MASS ON LOWER FOREARM

Gomal journal of medical sciences, 2017-12, Vol.15 (2)

2017

Volltextzugriff (PDF)

In Silico Analysis Identified Putative Pathogenic Missense nsSNPs in Human SLITRK1 Gene

Genes, 2022-04, Vol.13 (4), p.672

2022

Volltextzugriff (PDF)

1 – 25 von 73

Suche als RSS-Feed

Aktive Filter

ThemaPedigree

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(56)
Mit Volltextzugriff
(55)

Publikationsform

Sprache

Englisch
(73)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(1)
... seit 90 Tagen
(5)

Menü

Weitere Dienste

Einstellungen

Alopecia‐mental retardation syndrome: Molecular genetics of a rare neuro‐dermal disorder

Secured Dynamic Request Scheduling and Optimal CSP Selection for Analyzing Cloud Service Performance Using Intelligent Approaches

Exome sequence analysis identifies a homozygous, pathogenic, frameshift variant in the MAN2B1 gene underlying clinical variant of α-mannosidosis

Analysis of a non‐lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons

Mutation screening of multiple Pakistani MCPH families revealed novel and recurrent protein‐truncating mutations of ASPM

Machine Learning Approach to Classification of Online Users by Exploiting Information Seeking Behavior

An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codon

Current updates on genetic spectrum of usher syndrome

Comment on homozygosity mapping of a consanguineous Pakistani family affected with oculocutaneous albinism to Tyrosinase gene

Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanisms

The molecular genetics of UV-Sensitive syndrome: A rare dermal anomaly

Pakistan Genetic Mutation Database (PGMD); A centralized Pakistani mutome data source

UHPLC, ATR-FTIR analysis of Nymphoides indica rhizome extract and determination of antioxidant & antibiofilm potential

Development and Evaluation of Essential Oil-Based Nanoemulgel Formulation for the Treatment of Oral Bacterial Infections

A GHRHR founder mutation causes isolated growth hormone deficiency type IV in a consanguineous Pakistani family

A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family

A novel homozygous TSGA10 missense variant causes acephalic spermatozoa syndrome in a Pakistani family

Computational analyses of RPIA gene mutation causing Ribose-5-phosphate isomerase deficiency: a rarest known metabolic disorder in humans

A clinical and molecular characterization of a Pakistani family with multicentric osteolysis, nodulosis and arthropathy (MONA) syndrome

Lumateperone Interact with S-Protein of Ebola Virus and TIM-1 of Human Cell Membrane: Insights from Computational Studies

Mutation Analysis of a Pakistani Oculocutaneous Albinism Family Identifies a Novel Splice Site Defect in OCA2 Gene

Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly

In Silico Analysis of the L-2-Hydroxyglutarate Dehydrogenase Gene Mutations and Their Biological Impact on Disease Etiology

CHONDROMATOUS MASS ON LOWER FOREARM

In Silico Analysis Identified Putative Pathogenic Missense nsSNPs in Human SLITRK1 Gene

Aktive Filter

Suchergebnisse filtern