Results 201 to 210 of about 2,259,944 (347)

Erratum: The prognostic significance of fragile X mental retardation syndrome-related protein 1 (FXR1) in breast cancer. [PDF]

Transl Cancer Res
Editorial Office.
europepmc   +1 more source

X-linked mental retardation-hypotonic facies syndrome: Exome sequencing identifies novel clinical characteristics associated with c.5182G>C mutation in the ATRX gene. [PDF]

Mol Genet Genomic Med, 2022
Shakarami F, Jahani M, Nouri Z, Tabatabaiefar MA.   +3 more
europepmc   +1 more source

A Network Analysis of Alexithymia, Interoception, Empathy, Self‐Awareness and Psychopathological Symptoms in Young People With Autism Spectrum Disorder

Autism Research, EarlyView.
ABSTRACT Autism Spectrum Disorder (ASD) is associated with altered interoception, empathy, self‐awareness, and alexithymia. However, limited research has been conducted to investigate the interrelationships of these constructs with psychopathological symptoms.
Antonio Kei‐Fung Shek, Simon S. Y. Lui, Eric C. L. Lai, Raisie W. K. Wong, Jason L. F. Chan, Lok‐Yin Choi, Kimi H. Y. Lam, Eugenia Y. C. Lok, Siu‐Man Lam, Wang Yi, Raymond C. K. Chan   +10 more
wiley   +1 more source

X Linked Mental Retardation [PDF]

Australian Journal of Mental Retardation, 1970
openaire   +2 more sources

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation associated with KIF11 pathogenic variant: case report and genotype-phenotype correlation analysis. [PDF]

BMC Ophthalmol
Peng J, Xie Y, Wang H, Huang L, Yang Y, Li N.   +5 more
europepmc   +1 more source

Expression of FMRpolyG in Peripheral Blood Mononuclear Cells of Women with Fragile X Mental Retardation 1 Gene Premutation. [PDF]

Genes (Basel), 2022
Nguyen XP, Vilkaite A, Messmer B, Dietrich JE, Hinderhofer K, Schäkel K, Strowitzki T, Rehnitz J.   +7 more
europepmc   +1 more source

Analysis of Single Particles of Amyloid Beta and α‐Synuclein With Seeded Amplification for the Diagnosis of Alzheimer's and Parkinson's Disease

Biotechnology and Applied Biochemistry, EarlyView.
ABSTRACT Neurodegenerative diseases, including Alzheimer's disease (AD) and Parkinson's disease (PD), are characterized by the pathological aggregation of specific proteins such as amyloid beta (Aβ) and α‐synuclein, respectively. Early detection of these protein aggregates in biological fluids could facilitate timely diagnosis and therapeutic ...
Alexandra Dybala, Marlene Pils, Oliver Bannach, Gültekin Tamgüney, Detlev Riesner   +4 more
wiley   +1 more source

Identification of Houge type of X-linked syndromic mental retardation caused by CNKSR2 truncated variants. [PDF]

Ital J Pediatr
Chang SH, Jin JY, Hu YQ, Wang RY, Xiang R, Wang X.   +5 more
europepmc   +1 more source

Rare hypomagnesemia, seizures, and mental retardation in a 4-month-old patient caused by novel CNNM2 mutation Tyr189Cys: Genetic analysis and review. [PDF]

Mol Genet Genomic Med, 2022
Xu X, Hou S, Sun W, Zhu J, Yuan J, Cui Z, Wu, Tang J.   +7 more
europepmc   +1 more source