Results 261 to 270 of about 2,601,816 (350)

Alpha Thalassemia/Intellectual Disability Syndrome X-Linked Expression Varies Significantly between Androgen Receptor-Positive and Androgen Receptor-Negative Prostatic Adenocarcinoma: Relation to Epidermal Growth Factor Receptor Expression and Clinicopathological Factors. [PDF]

J Microsc Ultrastruct
El-Azeem MAA, Radi DA.
europepmc   +1 more source

EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO. [PDF]

Hum Mutat, 2017
Skopkova M, Hennig F, Shin BS, Turner CE, Stanikova D, Brennerova K, Stanik J, Fischer U, Henden L, Müller U, Steinberger D, Leshinsky-Silver E, Bottani A, Kurdiova T, Ukropec J, Nyitrayova O, Kolnikova M, Klimes I, Borck G, Bahlo M, Haas SA, Kim JR, Lotspeich-Cole LE, Gasperikova D, Dever TE, Kalscheuer VM.   +25 more
europepmc   +1 more source

What impact do day programs have on the quality of life and emotional wellbeing of adults with intellectual and developmental disabilities, such as Down syndrome?

Tripdatabase
openalex   +1 more source

Ulna hypoplasia-intellectual disability syndrome [PDF]

, 2020
openaire   +1 more source

Establishing consensus diagnostic criteria for ring chromosome 20 syndrome: A modified electronic Delphi consensus study

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to establish expert consensus clinical and diagnostic criteria for ring chromosome 20 syndrome using a modified electronic Delphi process. Methods In this modified two‐round electronic Delphi consensus study, international experts rated candidate statements using a 9‐point Likert scale.
Abizairie Sánchez‐Feliciano, William D. James, Mark P. Fitzgerald, Allison Watson, Angela Peron, Antonio Gil‐Nagel, Kenneth A. Myers, Kentaro Tokumoto, Lieven Lagae, Nancy B. Spinner, Rhys H. Thomas, Rudolf R. Roth, Sarah Woodson, Tim Buckinx, Yushi Inoue, John S. Barbieri   +15 more
wiley   +1 more source

Sensory-Rich Play and Language Development in Children with Down Syndrome and Intellectual Disabilities: A Quasi-Experimental Study

Dimitra V. Katsarou, Γεωργία Ανδρέου, Evangelos Mantsos   +2 more
openalex   +2 more sources

Xq27.3–q28 duplication involving the FMR1 gene presenting with familial X-linked hypogonadism, gynecomastia, short stature, intellectual disability, and obesity syndrome: a case report and review of the literature

Mehmet Ali Oktay, Elif Tuğçe Tunca Küçükali, G Kayhan, Esra Döğer, Mahmut Orhun Çamurdan, Aysun Bıdecı   +5 more
openalex   +1 more source

Resective epilepsy surgery in an adult with ARID1B‐related disorder and focal cortical dysplasia type IIb

Epileptic Disorders, EarlyView.
Émile Moura Coelho da Silva, Ibrahim Lafi, David Rodriguez‐Buritica, Jessica Johnson, Nitin Tandon, Samden Lhatoo   +5 more
wiley   +1 more source

Validation of the diagnosis of Lennox–Gastaut syndrome: Challenges and lessons learned

Epilepsia, EarlyView.
Abstract Objective Lennox–Gastaut Syndrome (LGS) is a severe developmental and epileptic encephalopathy characterized by multiple seizure types, cognitive impairment, and distinct electroencephalographic (EEG) findings. However, evolving diagnostic criteria, heterogeneous clinical features, and inconsistent electronic health record (EHR) documentation ...
Nicole Villalba, Marc Rosenman, Sandi Lam, Kelly G. Knupp, Liu Lin Thio, William P. Welch, Stephanie C. Randle, Rebecca Garcia‐Sosa, Laurel Reed, Tracy Dixon‐Salazar, Maura Carroll, Anup D. Patel   +11 more
wiley   +1 more source

Mutational Analysis of TRAPPC9 IN Non-syndromic Intellectual Disability in Selected Patients

Mubara Mubashar, Farva Razzaq Maham, Sofia Mumtaz, Farooq Ahmad, Fizza Hassan, Laraib Saleem, Hafiza Komal Naeem   +6 more
openalex   +2 more sources