UB Paderborn / Katalog / Suche / in CDI

The genomic and clinical landscape of fetal akinesia

Genetics in medicine, 2020-03, Vol.22 (3), p.511-523

2020

Link zum Volltext

Verfügbarkeit prüfen

Uniparental disomies 7 and 14

Best Practice & Research Clinical Endocrinology & Metabolism, 2011-02, Vol.25 (1), p.77-100

2011

Link zum Volltext

Verfügbarkeit prüfen

PRUNE1: a disease-causing gene for secondary microcephaly

Brain (London, England : 1878), 2017-10, Vol.140 (10), p.e61-e61

2017

Link zum Volltext

Verfügbarkeit prüfen

Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation

Frontiers in genetics, 2017-09, Vol.8, p.130-130

2017

Link zum Volltext

Verfügbarkeit prüfen

Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations

European journal of human genetics : EJHG, 2014-02, Vol.22 (2), p.286-288

2014

Link zum Volltext

Verfügbarkeit prüfen

Phenotypic spectrum in a family with a novel RAC2 p.I21S dominant‐activating mutation

Clinical & translational immunology, 2024, Vol.13 (2), p.e1493-n/a

2024

Link zum Volltext

Verfügbarkeit prüfen

Acetylcholine Receptor Pathway Mutations Explain Various Fetal Akinesia Deformation Sequence Disorders

American journal of human genetics, 2008-02, Vol.82 (2), p.464-476

2008

Link zum Volltext

Verfügbarkeit prüfen

Differential effects of ergometer-cycling and Whole-Body-Vibration training on serological BDNF and IGF-1 in the treatment of adolescent depression - is there an impact of BDNFp.Val66Met variants?

Physiology & behavior, 2021-11, Vol.241, p.113596-113596, Article 113596

2021

Link zum Volltext

Verfügbarkeit prüfen

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

Nature genetics, 2017-04, Vol.49 (4), p.537-549

2017

Link zum Volltext

Verfügbarkeit prüfen

Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32

European journal of human genetics : EJHG, 2015-02, Vol.23 (2), p.180-188

2015

Link zum Volltext

Verfügbarkeit prüfen

Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis

American journal of human genetics, 2016-11, Vol.99 (5), p.1206-1216

2016

Link zum Volltext

Verfügbarkeit prüfen

Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features

European journal of human genetics : EJHG, 2017-09, Vol.25 (9), p.1040-1048

2017

Link zum Volltext

Verfügbarkeit prüfen

Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis

American journal of human genetics, 2016-12, Vol.99 (6), p.1406-1408

2016

Link zum Volltext

Verfügbarkeit prüfen

The challenge of defining pathogenicity: the example of AHI1

Genetics in medicine, 2015-06, Vol.17 (6), p.508-508

2015

Link zum Volltext

Verfügbarkeit prüfen

LBH589 induces up to 10-fold SMN protein levels by several independent mechanisms and is effective even in cells from SMA patients non-responsive to valproate

Human molecular genetics, 2009-10, Vol.18 (19), p.3645-3658

2009

Link zum Volltext

Verfügbarkeit prüfen

A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction

Human molecular genetics, 2017-10, Vol.26 (20), p.4055-4066

2017

Link zum Volltext

Verfügbarkeit prüfen

Plastin 3 is upregulated in iPSC-derived motoneurons from asymptomatic SMN1-deleted individuals

Cellular and molecular life sciences : CMLS, 2016-05, Vol.73 (10), p.2089-2104

2016

Link zum Volltext

Verfügbarkeit prüfen

Severe SMA mice show organ impairment that cannot be rescued by therapy with the HDACi JNJ-26481585

European journal of human genetics : EJHG, 2013-06, Vol.21 (6), p.643-652

2013

Link zum Volltext

Verfügbarkeit prüfen

Use of whole exome sequencing in the NICU: Case of an extremely low birth weight infant with syndromic features

Molecular and cellular probes, 2019-06, Vol.45, p.89-93

2019

Link zum Volltext

Verfügbarkeit prüfen

Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability

American journal of human genetics, 2013-07, Vol.93 (1), p.181-190

2013

Link zum Volltext

Verfügbarkeit prüfen

A de novo ACTB gene pathogenic variant in identical twins with phenotypic variation for hydrops and jejunal atresia

American journal of medical genetics. Part A, 2022-04, Vol.188 (4), p.1299-1306

2022

Link zum Volltext

Verfügbarkeit prüfen

Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity

European journal of human genetics : EJHG, 2021-04, Vol.29 (4), p.593-603

2021

Link zum Volltext

Verfügbarkeit prüfen

VPA response in SMA is suppressed by the fatty acid translocase CD36

Human molecular genetics, 2013-01, Vol.22 (2), p.398-407

2013

Link zum Volltext

Verfügbarkeit prüfen

PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly

Human mutation, 2016-02, Vol.37 (2), p.170-174

2016

Link zum Volltext

Verfügbarkeit prüfen

Menü

Weitere Dienste

Einstellungen

The genomic and clinical landscape of fetal akinesia

Uniparental disomies 7 and 14

PRUNE1: a disease-causing gene for secondary microcephaly

Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation

Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations

Phenotypic spectrum in a family with a novel RAC2 p.I21S dominant‐activating mutation

Acetylcholine Receptor Pathway Mutations Explain Various Fetal Akinesia Deformation Sequence Disorders

Differential effects of ergometer-cycling and Whole-Body-Vibration training on serological BDNF and IGF-1 in the treatment of adolescent depression - is there an impact of BDNFp.Val66Met variants?

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32

Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis

Targeted sequencing with expanded gene profile enables high diagnostic yield in non‐5q‐spinal muscular atrophies

Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features

Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis

The challenge of defining pathogenicity: the example of AHI1

LBH589 induces up to 10-fold SMN protein levels by several independent mechanisms and is effective even in cells from SMA patients non-responsive to valproate

A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction

Plastin 3 is upregulated in iPSC-derived motoneurons from asymptomatic SMN1-deleted individuals

Severe SMA mice show organ impairment that cannot be rescued by therapy with the HDACi JNJ-26481585

Use of whole exome sequencing in the NICU: Case of an extremely low birth weight infant with syndromic features

Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability

A de novo ACTB gene pathogenic variant in identical twins with phenotypic variation for hydrops and jejunal atresia

Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity

VPA response in SMA is suppressed by the fatty acid translocase CD36

PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly

Suchergebnisse filtern