Publications by authors named "Yuan Mang"

Claim this Profile
P
PRRT2 benign familial infantile seizures (BFIS) with atypical evolution to encephalopathy related to status epilepticus during sleep (ESES).
Alberto Cossu, Joana L Santos, Giulia Galati, Marina Nikanorova, Paola Costa, Yuan Mang

Neurol Sci· June 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Rare Pathogenic Variants in Genes Implicated in Glutamatergic Neurotransmission Pathway Segregate with Schizophrenia in Pakistani Families.
Ambrin Fatima, Uzma Abdullah, Muhammad Farooq, Yuan Mang, Mana M Mehrjouy

Genes (Basel)· November 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Paroxysmal Cranial Dyskinesia and Nail-Patella Syndrome Caused by a Novel Variant in the LMX1B Gene.
Sara Bech, Annemette Løkkegaard, Troels T Nielsen, Anne Nørremølle, Sabine Grønborg, Yuan Mang

Mov Disord· December 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis.
Muhammad Farooq, Louise Lindbæk, Nicolai Krogh, Canan Doganli, Cecilie Keller, Yuan Mang

Nat Commun· November 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes.
Christina Halgren, Nete M Nielsen, Lusine Nazaryan-Petersen, Asli Silahtaroglu, Ryan L Collins, Yuan Mang

Am J Hum Genet· June 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genome-Wide Comparison of Next-Generation Sequencing and qPCR Platforms for microRNA Profiling in Serum.
Thorarinn Blondal, Maurizia Rossana Brunetto, Daniela Cavallone, Martin Mikkelsen, Michael Thorsen, Yuan Mang

Methods Mol Biol· February 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family.
Uzma Abdullah, Muhammad Farooq, Yuan Mang, Syeda Marriam Bakhtiar, Ambrin Fatima

Eur J Med Genet· December 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.
Rikke S Møller, Thomas V Wuttke, Ingo Helbig, Carla Marini, Katrine M Johannesen, Yuan Mang

Neurology· January 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family.
Muhammad Farooq, Ambrin Fatima, Yuan Mang, Lars Hansen, Klaus Wilbrandt Kjaer

J Hum Genet· March 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.
Elena Gardella, Felicitas Becker, Rikke S Møller, Julian Schubert, Johannes R Lemke, Yuan Mang

Ann Neurol· March 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Phenotypic subregions within the split-hand/foot malformation 1 locus.
Malene B Rasmussen, Sven Kreiborg, Per Jensen, Mads Bak, Yuan Mang

Hum Genet· March 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The phenotypic spectrum of SCN8A encephalopathy.
Jan Larsen, Gemma L Carvill, Elena Gardella, Gerhard Kluger, Gudrun Schmiedel, Yuan Mang

Neurology· February 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia.
Sheroy Minocherhomji, Claus Hansen, Hyung-Goo Kim, Yuan Mang, Mads Bak

Hum Mol Genet· December 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract.
Lars Hansen, Sophie Comyn, Yuan Mang, Allan Lind-Thomsen, Layne Myhre

Eur J Hum Genet· November 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
H
Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.
Lars Hansen, Hasan Tawamie, Yoshiko Murakami, Yuan Mang, Shoaib ur Rehman

Am J Hum Genet· April 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Sequence and expression analysis of gaps in human chromosome 20.
Sheroy Minocherhomji, Stefan Seemann, Yuan Mang, Zahra El-Schich, Mads Bak

Nucleic Acids Res· August 2012

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation.
Mette Gilling, Allan Lind-Thomsen, Yuan Mang, Mads Bak, Morten Møller

Eur J Med Genet· October 2011

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Population genetic analysis of shotgun assemblies of genomic sequences from multiple individuals.
Ines Hellmann, Yuan Mang, Zhiping Gu, Peter Li, Francisco M de la Vega

Genome Res· July 2008

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Intragenomic matching reveals a huge potential for miRNA-mediated regulation in plants.
Morten Lindow, Anders Jacobsen, Sanne Nygaard, Yuan Mang, Anders Krogh

PLoS Comput Biol· November 2007

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
O
Oligonucleotide ligation assay-based DNA chip for multiplex detection of single nucleotide polymorphism.
Jiao-Yu Deng, Xian-En Zhang, Yuan Mang, Zhi-Ping Zhang, Ya-Feng Zhou

Biosens Bioelectron· May 2004

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis