Corpus Callosum Agenesis Neuronopathy

Corpus Callosum Agenesis Neuronopathy is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy. Here is the latest research.

June 20, 2019

Fetal brain MRI findings and neonatal outcome of common diagnosis at a tertiary care center

Journal of Perinatology : Official Journal of the California Perinatal Association
Monica S ArroyoCharu Venkatesan
December 12, 2019
Case Report
Open Access

Whole-Exome Sequencing Revealed Mutations of MED12 and EFNB1 in Fetal Agenesis of the Corpus Callosum

Frontiers in Genetics
Ying JiangQiong Luo
August 24, 2019
Open Access

Robust Polymer Nanocomposite Membranes Incorporating Discrete TiO2 Nanotubes for Water Treatment

Nanomaterials
Najia MahdiMohtada Sadrzadeh
May 23, 2020

Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability

Journal of Medical Genetics
Arisha RasheedAshleigh Schaffer
November 8, 2019
Case Report

A novel heterozygous loss-of-function DCC Netrin 1 receptor variant in prenatal agenesis of corpus callosum and review of the literature

American Journal of Medical Genetics. Part a
Lena Sagi-DainHagit Baris Feldman
January 26, 2020

De Novo ARID1B mutations cause growth delay associated with aberrant Wnt/β-catenin signaling

Human Mutation
Xiaomin LiuYongguo Yu
May 10, 2020
Open Access

Klinefelter Syndrome and Corpus Callosum Agenesis

Indian Journal of Pediatrics
Indar K Sharawat, Prateek Kumar Panda
December 17, 2019

Radiological Findings on Structural MRI in Fetal Alcohol Spectrum Disorders and Healthy Controls

Alcoholism, Clinical and Experimental Research
Sarah TreitDerek Emery
August 24, 2019

De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy

Journal of Medical Genetics
Joohyun ParkTobias B Haack
May 19, 2019

Hydrous ferric oxide nanoparticles hosted porous polyethersulfone adsorptive membrane: chromium (VI) adsorptive studies and its applicability for water/wastewater treatment

Environmental Science and Pollution Research International
Norfadhilatuladha AbdullahKatsuhiko Ariga
July 2, 2020

CAPOS Syndrome: A Rare ATP1A3-Related Disorder

Annals of Indian Academy of Neurology
Indar K SharawatNaveen Sankhyan
March 7, 2020
Case Report

A novel variation in ATP1A3 gene in a child with CAPOS syndrome

Zhonghua er ke za zhi. Chinese journal of pediatrics
F ZhangG Yang
May 31, 2019

Corpus Callosum Agenesis: Neuroanatomical Model of Autism Spectrum Disorder?

Indian Journal of Psychological Medicine
Suravi PatraMenka Jha
July 1, 2020

Ultrasound and Magnetic Resonance Imaging of Agenesis of the Corpus Callosum in Fetuses: Frontal Horns and Cavum Septi Pellucidi Are Clues to Earlier Diagnosis

Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine
Neda GhassemiDolores H Pretorius
February 14, 2020

Report of Two Siblings with Andermann Syndrome

Indian Journal of Pediatrics
Vykuntaraju K GowdaSanjay K Shivappa
January 25, 2020
Case Report

Towards New Approaches to Evaluate Dynamic Mosaicism in Ring Chromosome 13 Syndrome

Case Reports in Genetics
Cristian PetterMariluce Riegel
May 3, 2019
Open Access

The effect of demographic characteristics, Country of birth and country of medical training on the peer evaluations of internal medicine resident physicians

Journal of Community Hospital Internal Medicine Perspectives
G D EverettY Du

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