UB Paderborn / Katalog / Suche / in CDI

1 – 20 von 20

Sortiert nach

A child with dilated cardiomyopathy and homozygous splice site variant in FLNC gene

Molecular genetics and metabolism reports, 2024-03, Vol.38, p.101027, Article 101027

2024

Volltextzugriff (PDF)

Autozygome and high throughput confirmation of disease genes candidacy

Genetics in medicine, 2019-03, Vol.21 (3), p.736-742

2019

Volltextzugriff (PDF)

Biallelic pathogenic variants in COX11 are associated with an infantile‐onset mitochondrial encephalopathy

Human mutation, 2022-12, Vol.43 (12), p.1970-1978

2022

Volltextzugriff (PDF)

Coexistence of epileptic encephalopathy with continuous spike-and-wave during sleep, atypical benign partial epilepsy, and fixation-off sensitivity in two siblings

Epilepsy & behavior, 2011-01, Vol.20 (1), p.116-122

2011

Volltextzugriff (PDF)

Microcephaly, retinal dysplasia, pedal edema, mental retardation, and short stature

Neurosciences (Riyadh, Saudi Arabia), 2006-07, Vol.11 (3), p.210

2006

Volltextzugriff (PDF)

A child with dilated cardiomyopathy and homozygous splice site variant in FLNC gene

Molecular genetics and metabolism reports, 2024, Vol.38, p.101027-101027

2024

Volltextzugriff (PDF)

Genomic and phenotypic delineation of congenital microcephaly

Genetics in medicine, 2019-03, Vol.21 (3), p.545-552

2019

Volltextzugriff (PDF)

Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

Cell reports (Cambridge), 2015-01, Vol.10 (2), p.148-161

2015

Volltextzugriff (PDF)

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

Human genetics, 2017-08, Vol.136 (8), p.921-939

2017

Volltextzugriff (PDF)

Expanding the genetic heterogeneity of intellectual disability

Human genetics, 2017-11, Vol.136 (11-12), p.1419-1429

2017

Volltextzugriff (PDF)

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families

Nature communications, 2023-08, Vol.14 (1), p.5269-5269, Article 5269

2023

Volltextzugriff (PDF)

The landscape of early infantile epileptic encephalopathy in a consanguineous population

Seizure (London, England), 2019-07, Vol.69, p.154-172

2019

Volltextzugriff (PDF)

Mutations of the histone linker H1–4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4

Human molecular genetics, 2022-05, Vol.31 (9), p.1430-1442

2022

Volltextzugriff (PDF)

Expanding the phenome and variome of skeletal dysplasia

Genetics in medicine, 2018-12, Vol.20 (12), p.1609-1616

2018

Volltextzugriff (PDF)

Correction to: Expanding the genetic heterogeneity of intellectual disability

Human genetics, 2018, Vol.137 (1), p.105-109

2018

Volltextzugriff (PDF)

Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

Brain (London, England : 1878), 2021-09, Vol.144 (8), p.e70-e70

2021

Volltextzugriff (PDF)

Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures

American journal of human genetics, 2014-01, Vol.94 (1), p.87-94

2014

Volltextzugriff (PDF)

1 – 20 von 20

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(19)
Mit Volltextzugriff
(20)

Publikationsform

Artikel
(19)
Berichte
(1)

Sprache

Englisch
(20)
Japanisch
(8)

Erscheinungsjahr

n.n

Thema

Science & Technology
(17)
Life Sciences & Biomedicine
(16)
Humans
(13)
Genetics & Heredity
(12)
Female
(9)
Male
(9)
Mutation
(8)
Phenotype
(7)
Pedigree
(5)
Child, Preschool
(4)
Genomes
(4)
High-Throughput Nucleotide Sequencing
(4)
Alleles
(3)
Biomedical And Life Sciences
(3)
Biomedicine
(3)
Child
(3)
Clinical Neurology
(3)
Disease
(3)
Gene Function
(3)
Genetic Heterogeneity
(3)

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

A child with dilated cardiomyopathy and homozygous splice site variant in FLNC gene

Autozygome and high throughput confirmation of disease genes candidacy

Biallelic pathogenic variants in COX11 are associated with an infantile‐onset mitochondrial encephalopathy

Coexistence of epileptic encephalopathy with continuous spike-and-wave during sleep, atypical benign partial epilepsy, and fixation-off sensitivity in two siblings

Microcephaly, retinal dysplasia, pedal edema, mental retardation, and short stature

A child with dilated cardiomyopathy and homozygous splice site variant in FLNC gene

Genomic and phenotypic delineation of congenital microcephaly

THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder

Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

Characterizing the morbid genome of ciliopathies

Expanding the genetic heterogeneity of intellectual disability

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families

The landscape of early infantile epileptic encephalopathy in a consanguineous population

Mutations of the histone linker H1–4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4

Expanding the phenome and variome of skeletal dysplasia

Correction to: Expanding the genetic heterogeneity of intellectual disability

Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases

Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures

Suchergebnisse filtern