Results 201 to 210 of about 2,601,816 (350)

Ageing in Adults With Mild and Moderate Intellectual Disabilities in Brazil: A Biopsychosocial Comparison of Individuals With and Without Down Syndrome

Leila Regina de Castro, Rita de Cássia Ernandes, Érika Christina Gouveia e Silva, Luciana Mascarenhas Fonseca, José Maria Montiel, Angélica Castilho Alonso   +5 more
openalex   +1 more source

Intellectual disability-alacrima-achalasia syndrome [PDF]

, 2020
openaire   +1 more source

Occipital irregular delta activity in focal epilepsy

Epileptic Disorders, EarlyView.
Abstract Objective Nonspecific occipital irregular delta activity (OID) is a common finding in focal epilepsy (FE). However, the significance of OID and its relationship to the underlying etiology of FE remain largely unstudied. This study aimed to investigate the relationship between OID and the etiology of FE, as well as the relationship between OID ...
Mónika Bessenyei, Miklós Emri, Johanna Dömötör, Béla Clemens   +3 more
wiley   +1 more source

The spectrum of heart defects in the <i>TRAF7</i>-related multiple congenital anomalies-intellectual disability syndrome. [PDF]

Proc Natl Acad Sci U S A
Pisan E, De Luca C, Brancati F, Sanchez Russo R, Li D, Bhoj E, Wenger T, Marwaha A, Johnson N, Beneteau C, Brischoux-Boucher E, Houge G, Paulsen J, Hammer TB, Ek J, Schweitzer D, Russell BE, Dutra-Clarke M, Nelson S, Douine ED, Corona RI, Dudding T, Thomson H, Low K, Belnap N, Iascone M, Priolo M, Carli D, Mussa A, Bijlsma EK, Kopp N, Jais JP, Amiel J, Gordon CT.   +33 more
europepmc   +1 more source

De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome. [PDF]

Hum Genet, 2020
Ufartes R, Berger H, Till K, Salinas G, Sturm M, Altmüller J, Nürnberg P, Thiele H, Funke R, Apeshiotis N, Langen H, Wollnik B, Borchers A, Pauli S.   +13 more
europepmc   +1 more source

Cryptorchidism-arachnodactyly-intellectual disability syndrome [PDF]

, 2020
openaire   +1 more source

Reflex seizures and epilepsy surgery: A network approach case‐based exploration

Epileptic Disorders, EarlyView.
Abstract Context Reflex seizures (RS) are defined by their consistent provocation by specific stimuli, encompassing a broad range from elementary sensory inputs to complex cognitive tasks. While RS are often encountered in clinical practice, their surgical management remains sparsely reported and poorly systematized.
Olivier Aron, Laure Salmon, Nicolas Nguyen, Dènahin Toffa, Sami Obaid, Alexis Robin, Dang Khoa Nguyen   +6 more
wiley   +1 more source

Skraban-Deardorff intellectual disability syndrome-associated mutations in WDR26 impair CTLH E3 complex assembly. [PDF]

FEBS Lett
Gross A, Müller J, Chrustowicz J, Strasser A, Gottemukkala KV, Sherpa D, Schulman BA, Murray PJ, Alpi AF.   +8 more
europepmc   +1 more source

Further delineation of autosomal recessive intellectual disability syndrome caused by homozygous variant of the NSUN2 gene in a chinese pedigree. [PDF]

Mol Genet Genomic Med, 2020
Sun S, Chen L, Wang Y, Wang J, Li N, Wang X.   +5 more
europepmc   +1 more source

Cataract-hypertrichosis-intellectual disability syndrome [PDF]

, 2020
openaire   +1 more source