UB Paderborn / Katalog / Suche / in CDI

Genetic modifiers of ambulation in the cooperative international Neuromuscular research group Duchenne natural history study

Annals of neurology, 2015-04, Vol.77 (4), p.684-696

2015

Link zum Volltext

Verfügbarkeit prüfen

Somatic mosaicism due to a reversion variant causing hemi-atrophy: a novel variant of dystrophinopathy

European journal of human genetics : EJHG, 2016-10, Vol.24 (10), p.1511-1514

2016

Link zum Volltext

Verfügbarkeit prüfen

Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance

Pediatric neurology, 2015-02, Vol.52 (2), p.239-244

2015

Link zum Volltext

Verfügbarkeit prüfen

Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network

Molecular genetics & genomic medicine, 2020-10, Vol.8 (10), p.e1397-n/a

2020

Link zum Volltext

Verfügbarkeit prüfen

A novel mutation expands the genetic and clinical spectrum of MYH7 -related myopathies

Neuromuscular disorders : NMD, 2013-05, Vol.23 (5), p.432-436

2013

Link zum Volltext

Verfügbarkeit prüfen

Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy

Annals of clinical and translational neurology, 2019-08, Vol.6 (8), p.1395-1406

2019

Link zum Volltext

Verfügbarkeit prüfen

Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles

American journal of human genetics, 2018-08, Vol.103 (2), p.171-187

2018

Link zum Volltext

Verfügbarkeit prüfen

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

American journal of human genetics, 2019-07, Vol.105 (1), p.132-150

2019

Link zum Volltext

Verfügbarkeit prüfen

High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population

American journal of human genetics, 2021-10, Vol.108 (10), p.1981-2005

2021

Link zum Volltext

Verfügbarkeit prüfen

Diagnosis and etiology of congenital muscular dystrophy: We are halfway there

Annals of neurology, 2016-07, Vol.80 (1), p.101-111

2016

Link zum Volltext

Verfügbarkeit prüfen

Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan

American journal of human genetics, 2013-07, Vol.93 (1), p.29-41

2013

Link zum Volltext

Verfügbarkeit prüfen

eP312: Exon level array utility in follow up to identification of copy number variants on expanded carrier screening

Genetics in medicine, 2022-03, Vol.24 (3), p.S196-S197

2022

Link zum Volltext

Verfügbarkeit prüfen

Short read (next-generation) sequencing: a tutorial with cardiomyopathy diagnostics as an exemplar

Circulation. Cardiovascular genetics, 2013-08, Vol.6 (4), p.427

2013

Link zum Volltext

Verfügbarkeit prüfen

Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature

American journal of medical genetics. Part A, 2024-03, Vol.194 (3), p.e63455-n/a

2024

Link zum Volltext

Verfügbarkeit prüfen

Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder

American journal of human genetics, 2019-11, Vol.105 (5), p.1048-1056

2019

Link zum Volltext

Verfügbarkeit prüfen

Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders

American journal of human genetics, 2019-11, Vol.105 (5), p.1005-1015

2019

Link zum Volltext

Verfügbarkeit prüfen

Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis

Molecular genetics and metabolism, 2018-11, Vol.125 (3), p.302-304

2018

Link zum Volltext

Verfügbarkeit prüfen

Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects

Muscle & nerve, 2017-02, Vol.55 (2), p.277-281

2017

Link zum Volltext

Verfügbarkeit prüfen

A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly

American journal of medical genetics. Part A, 2023-03, Vol.191 (3), p.794-804

2023

Link zum Volltext

Verfügbarkeit prüfen

The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia

Human molecular genetics, 2018-06, Vol.27 (12), p.2064-2075

2018

Link zum Volltext

Verfügbarkeit prüfen

Investigating Genetic Mechanisms Underlying Clinical Heterogeneity in Neuromuscular Diseases

Punetha, Jaya

2016

Link zum Volltext
ProQuest

Facile synthesis of nucleoside 5'-(α-P-seleno)-triphosphates and phosphoroselenoate RNA transcription

RNA (Cambridge), 2011-10, Vol.17 (10), p.1932-1938

2011

Link zum Volltext

Verfügbarkeit prüfen

Wolff–Parkinson–White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation

American journal of medical genetics. Part A, 2020-06, Vol.182 (6), p.1387-1399

2020

Link zum Volltext

Verfügbarkeit prüfen

Exome Sequencing Identifies DYNC1H1 Variant Associated with Vertebral Abnormality and SMA-LED

Pediatric neurology, 2014-10, Vol.52 (2), p.239-244

2014

Link zum Volltext

Verfügbarkeit prüfen

Menü

Weitere Dienste

Einstellungen

Genetic modifiers of ambulation in the cooperative international Neuromuscular research group Duchenne natural history study

Somatic mosaicism due to a reversion variant causing hemi-atrophy: a novel variant of dystrophinopathy

Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance

Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network

A novel mutation expands the genetic and clinical spectrum of MYH7 -related myopathies

Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy

Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population

Diagnosis and etiology of congenital muscular dystrophy: We are halfway there

Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan

eP312: Exon level array utility in follow up to identification of copy number variants on expanded carrier screening

Short read (next-generation) sequencing: a tutorial with cardiomyopathy diagnostics as an exemplar

Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability

Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature

Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder

Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders

Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis

Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects

A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly

The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia

Investigating Genetic Mechanisms Underlying Clinical Heterogeneity in Neuromuscular Diseases

Facile synthesis of nucleoside 5'-(α-P-seleno)-triphosphates and phosphoroselenoate RNA transcription

Wolff–Parkinson–White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation

Exome Sequencing Identifies DYNC1H1 Variant Associated with Vertebral Abnormality and SMA-LED

Suchergebnisse filtern