Truncating De Novo Mutations in the Krüppel-Type Zinc-Finger Gene ZNF148 in Patients With Corpus Callosum Defects, Developmental Delay, Short Stature, and Dysmorphisms

Genome Medicine - United Kingdom
doi 10.1186/s13073-016-0386-9
Full Text
Abstract

Available in full text

Date
Authors
Publisher

Springer Science and Business Media LLC

Related search

Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects

American Journal of Human Genetics
Genetics
2016English

Investigation of SHOX Gene Mutations in Turkish Patients With Idiopathic Short Stature

JCRPE Journal of Clinical Research in Pediatric Endocrinology
Child HealthEndocrinologyPerinatologyPediatricsMetabolismDiabetes
2016English

De Novo Truncating Variants in theAHDC1gene Encoding the AT-hook DNA-binding Motif-Containing Protein 1 Are Associated With Intellectual Disability and Developmental Delay

Cold Spring Harbor molecular case studies
BiochemistryMolecular MedicineGenetics
2015English

Early-Onset Epileptic Encephalopathy and Severe Developmental Delay in an Association With De Novo Double Mutations in NF1 and MAGEL2

Epilepsia Open
Neurology
2017English

Defects of the Fetal Forebrain in Mice With Hereditary Agenesis of the Corpus Callosum

Journal of Comparative Neurology
Neuroscience
1987English

Developmental Trajectories of the Corpus Callosum in Attention-Deficit/Hyperactivity Disorder

Biological Psychiatry
Biological Psychiatry
2011English

Chromosome Abnormalities in Indonesian Patients With Short Stature

Molecular Cytogenetics
BiochemistryMolecular MedicineGeneticsMolecular Biology
2012English

Angular Analysis of Corpus Callosum in 18 Patients With Frontonasal Dysplasia

Arquivos de Neuro-Psiquiatria
Biological PsychiatryNeurology
2004English

Anterior Genu Corpus Callosum and Impulsivity in Suicidal Patients With Bipolar Disorder

Neuroscience Letters
Neuroscience
2010English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2024 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy