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...

Exome sequencing reveled a compound heterozygous mutations in RTTN gene causing developmental delay and primary microcephaly

Saudi journal of biological sciences, 2021-05, Vol.28 (5), p.2824-2829

2021

Volltextzugriff (PDF)

Pretreatment with troxerutin protects/improves neurological deficits in a mouse model of traumatic brain injury

Heliyon, 2023-07, Vol.9 (7), p.e18033-e18033, Article e18033

2023

Volltextzugriff (PDF)

Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families

The journal of gene medicine, 2023-10, Vol.25 (10), p.e3522-e3522

2023

Volltextzugriff (PDF)

Report of Hermansky-Pudlak Syndrome in Two Families with Novel Variants in HPS3 and HPS4 Genes

Genes, 2023-01, Vol.14 (1), p.145

2023

Volltextzugriff (PDF)

Whole exome sequencing identified five novel variants in CNTN2 , CARS2 , ARSA , and CLCN4 leading to epilepsy in consanguineous families

Frontiers in genetics, 2023-06, Vol.14, p.1185065-1185065

2023

Volltextzugriff (PDF)

Whole Exome Sequencing Identifies Three Novel Mutations in the ASPM Gene From Saudi Families Leading to Primary Microcephaly

Frontiers in pediatrics, 2021-02, Vol.8, p.627122-627122

2021

Volltextzugriff (PDF)

Novel Variants in MPV17, PRX, GJB1 , and SACS Cause Charcot-Marie-Tooth and Spastic Ataxia of Charlevoix-Saguenay Type Diseases

Genes, 2023-01, Vol.14 (2), p.328

2023

Volltextzugriff (PDF)

A Novel Homozygous Nonsense Variant in the DYM Underlies Dyggve-Melchior-Clausen Syndrome in Large Consanguineous Family

Genes, 2023-02, Vol.14 (2), p.510

2023

Volltextzugriff (PDF)

Whole-Exome Sequencing Identifies Novel SCN1A and CACNB4 Genes Mutations in the Cohort of Saudi Patients With Epilepsy

Frontiers in pediatrics, 2022-06, Vol.10, p.919996-919996

2022

Volltextzugriff (PDF)

A novel homozygous frameshift variant in the MCPH1 gene causes primary microcephaly in a consanguineous Saudi family

Genes & Genomics, 2017, 39(12), , pp.1317-1323

2017

Volltextzugriff (PDF)

Phelan-McDermid syndrome: a case report and review of the literature

Journal of Biochemical and Clinical Genetics, 2022-12, Vol.5 (2), p.53-58

2022

Volltextzugriff (PDF)

A Novel Homozygous Nonsense Variant in the IDYM/I Underlies Dyggve-Melchior-Clausen Syndrome in Large Consanguineous Family

Genes, 2023-02, Vol.14 (2)

2023

Volltextzugriff (PDF)

Research Article A novel homozygous stop gain mutation in SLC12A3 gene cause Gitelman syndrome in Saudi consanguineous family

Genetics and molecular research, 2018, Vol.17 (1)

2018

Volltextzugriff (PDF)

A novel homozygous frameshift variant in the MCPH1 gene causes primary microcephaly in a consanguineous Saudi family

Genes & genomics, 2017-12, p.1317-1323

2017

Volltextzugriff (PDF)

A novel homozygous stop gain mutation in SLC12A3 gene cause Gitelman syndrome in Saudi consanguineous family

Genetics and molecular research, 2017-12 (1), p.1

2017

Volltextzugriff (PDF)

1 – 17 von 17

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(17)
Mit Volltextzugriff
(17)

Publikationsform

Artikel
(17)

Sprache

Englisch
(16)
Koreanisch
(1)

Erscheinungsjahr

n.n

Thema

Science & Technology
(12)
Life Sciences & Biomedicine
(11)
Genetics & Heredity
(8)
Mutation
(5)
Epilepsy
(4)
Proteins
(4)
Genetic Counseling
(3)
Genetic Disorders
(3)
Humans
(3)
Molecular Diagnostics
(3)
Patients
(3)
Pediatrics
(3)
Phenotypes
(3)
Population Studies
(3)
Whole Exome Sequencing
(3)
Amino Acids
(2)
Ataxia
(2)
Biochemistry & Molecular Biology
(2)
Biotechnology & Applied Microbiology
(2)
Charcot-Marie-Tooth Disease
(2)

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Exome sequencing reveled a compound heterozygous mutations in RTTN gene causing developmental delay and primary microcephaly

Pretreatment with troxerutin protects/improves neurological deficits in a mouse model of traumatic brain injury

Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families

Report of Hermansky-Pudlak Syndrome in Two Families with Novel Variants in HPS3 and HPS4 Genes

Whole exome sequencing identified five novel variants in CNTN2 , CARS2 , ARSA , and CLCN4 leading to epilepsy in consanguineous families

Whole Exome Sequencing Identifies Three Novel Mutations in the ASPM Gene From Saudi Families Leading to Primary Microcephaly

Novel Variants in MPV17, PRX, GJB1 , and SACS Cause Charcot-Marie-Tooth and Spastic Ataxia of Charlevoix-Saguenay Type Diseases

A Novel Homozygous Nonsense Variant in the DYM Underlies Dyggve-Melchior-Clausen Syndrome in Large Consanguineous Family

Whole-Exome Sequencing Identifies Novel SCN1A and CACNB4 Genes Mutations in the Cohort of Saudi Patients With Epilepsy

A novel homozygous frameshift variant in the MCPH1 gene causes primary microcephaly in a consanguineous Saudi family

Phelan-McDermid syndrome: a case report and review of the literature

Unveiling genetics of non-syndromic albinism using whole exome sequencing: A comprehensive study of TYR, TYRP1, OCA2 and MC1R genes in 17 families

A Novel Homozygous Nonsense Variant in the IDYM/I Underlies Dyggve-Melchior-Clausen Syndrome in Large Consanguineous Family

Novel Variants in IMPV17, PRX, GJB1/I, and ISACS/I Cause Charcot–Marie–Tooth and Spastic Ataxia of Charlevoix–Saguenay Type Diseases

Research Article A novel homozygous stop gain mutation in SLC12A3 gene cause Gitelman syndrome in Saudi consanguineous family

A novel homozygous frameshift variant in the MCPH1 gene causes primary microcephaly in a consanguineous Saudi family

A novel homozygous stop gain mutation in SLC12A3 gene cause Gitelman syndrome in Saudi consanguineous family

Suchergebnisse filtern