Results 151 to 160 of about 2,601,816 (350)

Two iPSC lines with frameshift mutations in FTSJ1 as models for X-linked non-syndromic intellectual disability [PDF]

S. Edwards, Jennifer M. Rhode, Lisa Hagenau, Md Faruq Hossain, T Sura, Ana Tzvetkova, B. Nowack, Lars R. Jensen, Andreas Walter Kuss   +8 more
openalex   +1 more source

Alopecia-intellectual disability syndrome [PDF]

, 2020
openaire   +1 more source

Judicial Perspectives on Neurodiversity in Queensland Courts, Tribunals and Commissions: Experiences With Disclosure and Witness Credibility

Australian Journal of Social Issues, EarlyView.
ABSTRACT Little is known about the impacts of the disclosure, or the non‐disclosure, of medical conditions associated with neurodiversity in the context of court proceedings and hearings before tribunals and commissions. This paper examines the experiences of twenty‐three Queensland Judges, Magistrates, and Tribunal and Commission Members with ...
Danielle Bozin, Karen A. Sullivan, Vincent Denault, Catherine Kennon, Lucy Cradduck, Rachel Hews   +5 more
wiley   +1 more source

Human ARHGEF9 intellectual disability syndrome is phenocopied by a mutation that disrupts collybistin binding to the GABA_A receptor α2 subunit. [PDF]

Mol Psychiatry, 2022
Hines DJ, Contreras A, Garcia B, Barker JS, Boren AJ, Moufawad El Achkar C, Moss SJ, Hines RM.   +7 more
europepmc   +1 more source

The “Compliance Gap” in Surgical Decision-Making for Bardet–Biedl Syndrome with Vaginal Reatresia and Intellectual Disability: A Case for Hysterectomy [PDF]

Shuangshuang Zhong, 金杭美
openalex   +1 more source

Megalocornea-intellectual disability syndrome [PDF]

, 2020
openaire   +1 more source

Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability

Annals of Neurology, EarlyView.
Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate, Romain Duval, Marina Konyukh, Alessandro Bertini, Ayse Candayan, Albena Jordanova, Theresa Brunet, Wolfgang Müller‐Felber, Helena F. Pernice, Katrin Hahn, Nadja Ehmke, Juliane Beuschlein, Bertrand Isidor, Benjamin Cogné, Yann Péréon, Annabelle Chaussenot, John Rendu, Aysylu Murtazina, Dmitrii Subbotin, Artem Borovikov, Andrey Marakhonov, Chiara Pisciotta, Paola Saveri, Daniele Cazzato, Lucie Lemeray, Bérengère Koehl, Jean‐Madeleine de Sainte‐Agathe, Stefano Facchini, Ilaria Quartesan, Andrea Cortese, Yesim Parman, Arman Cakar, Davide Pareyson, Slim Azouzi, Tanya Stojkovic   +34 more
wiley   +1 more source

Snyder-Robinson syndrome presenting with learning disability, epilepsy, and osteoporosis: A novel SMS gene variant

Rare
Snyder-Robinson syndrome (SRS) is a rare X-linked recessive disorder characterized by a collection of clinical features including mild to severe intellectual disability, hypertonia, marfanoid habitus, facial asymmetry, osteoporosis, developmental delay ...
Megumi Leung, Meredith Sanchez-Castillo, Newell Belnap, Marcus Naymik, Anna Bonfitto, Jennifer Sloan, Katie Hassett, Wayne M. Jepsen, Aravind Sankaramoorthy, Tracy Murray Stewart, Jackson R. Foley, Sampathkumar Rangasamy, Matthew J. Huentelman, Vinodh Narayanan, Keri Ramsey   +14 more
doaj   +1 more source

Novel biallelic variants affecting the OTU domain of the gene OTUD6B associate with severe intellectual disability syndrome and molecular dynamics simulations. [PDF]

Eur J Med Genet, 2022
Cingöz S, Soydemir D, Öner TÖ, Karaca E, Özden B, Kurul SH, Bayram E, University of Washington Center for Mendelian Genomics, Coe BP, Nickerson DA, Eichler EE.   +10 more
europepmc   +1 more source

Intellectual disability-strabismus syndrome [PDF]

, 2020
openaire   +1 more source