Results 151 to 160 of about 45,554 (278)

Defects in tRNA Anticodon Loop 2′‐O‐Methylation Are Implicated in Nonsyndromic X‐Linked Intellectual Disability due to Mutations in FTSJ1

Human Mutation, 2015
Michael P Guy, M. Shaw, Catherine L. Weiner, Lynne Hobson, Zornitza Stark, K. Rose, V. Kalscheuer, J. Gécz, E. Phizicky   +8 more
semanticscholar   +1 more source

Highly purified cannabidiol (CBD) in CDKL5 deficiency disorder (CDD): Open‐label prospective study

Epilepsia Open, EarlyView.
Abstract Objective CDKL5 deficiency disorder (CDD) is an early‐onset developmental and epileptic encephalopathy characterized by frequent drug‐resistant seizures, cerebral visual impairment, motor dysfunction, and sleep and gastrointestinal disturbances.
Marco Perulli, Alessia De Gioia, Federica Ruggiero, Federica Ascione, Chiara Porto, Elisa Musto, Valentina Massaroni, Maria Picilli, Maria Luigia Gambardella, Michela Quintiliani, Ilaria Contaldo, Chiara Veredice, Domenica Immacolata Battaglia   +12 more
wiley   +1 more source

The X-Linked Intellectual Disability Gene, ZDHHC9 , Is Important for Oligodendrocyte Subtype Determination and Myelination. [PDF]

Glia
White RB, Wild AR, O'Leary TP, Thompson AJ, Flibotte S, Peng A, Rogalski JC, Mair M, Derhami N, Bamji SX.   +9 more
europepmc   +1 more source

X-linked intellectual disability, Armfield type [PDF]

, 2020
openaire   +1 more source

Recent advances in multifunctional soft robots: A materials–structures–systems co‐design perspective for synergistic integration

FlexMat, EarlyView.
Abstract Soft robots, engineered from highly compliant materials, offer superior adaptability and safety in unstructured environments compared to their rigid counterparts. Recent advancements, fueled by bio‐inspiration and material programmability, have led to the rapid co‐evolution of their core modules: actuation, sensing, protection, energy, and ...
Qiulei Liu, Zicao Peng, Chong Sun, Haitao Yang   +3 more
wiley   +1 more source

A New Family with X-Linked Intellectual Disability 90: A Case Report of a <i>Novel DLG3</i> Variant and Literature Review. [PDF]

Mol Syndromol
Alavanda C, Çıkı K.
europepmc   +1 more source

X-linked intellectual disability, Najm type [PDF]

, 2020
openaire   +1 more source

Dietary and biomarker‐guided strategies as supportive measures in the fragile X syndrome

Food Biomacromolecules, EarlyView.
Abstract The fragile X syndrome (FXS) is an inherited neurodevelopmental disorder that primarily affects males, often resulting in an IQ below 55, while about two‐thirds of females also experience intellectual disability. Physical features may include an elongated face, prominent ears, finger joint laxity, and enlarged testes in males.
Jailan E. El Halawani, Reem R. AlOlaby
wiley   +1 more source

Exon 21 deletion in the OPHN1 gene in a family with syndromic X-linked intellectual disability: Case report. [PDF]

Medicine (Baltimore), 2020
Bogliş A, Cosma AS, Tripon F, Bãnescu C.   +3 more
europepmc   +1 more source

X-linked intellectual disability, Siderius type [PDF]

, 2020
openaire   +1 more source