A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome
- Creator: Ben-Mahmoud, Afif , Kishikawa, Shotaro , Gupta, Vijay , Leach, Natalie T. , Shen, Yiping , Moldovan, Oana , Goel, Himanshu , Hopper, Bruce , Ranguin, Kara , Gruchy, Nicolas , Maas, Saskia M. , Lacassie, Yves , Kim, Soo-Hyun , Kim, Woo-Yang , Quade, Bradley J. , Morton, Cynthia C. , Kim, Cheol-Hee , Layman, Lawrence C. , Kim, Hyung-Goo
- Resource Type: journal article
- Date: 2023
Psychological therapies for anxiety in autistic individuals with co-occurring intellectual developmental disorder: A systematic review
- Creator: Kazzi, Christina , Campbell, Linda , Porter, Melanie
- Resource Type: journal article
- Date: 2023
Daytime sleepiness and emotional and behavioral disturbances in Prader-Willi syndrome
- Creator: Choong, Catherine S. , Nixon, Gillian M. , Schofield, Cara , Seton, Chris , Tai, Andrew , Tham, Elaine , Vora, Komal , Crock, Patricia , Verge, Charles , Musthaffa, Yassmin , Blecher, Greg , Wilson, Andrew , Blackmore, A. Marie , Downs, Jenny , Chen, Wai , Jacoby, Peter , Leonard, Helen , Lafferty, Antony R. , Ambler, Geoff , Kapur, Nitin , Bergman, Philip B.
- Resource Type: journal article
- Date: 2022
Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability
- Creator: Field, Michael J. , Kumar, Raman , Gardner, Alison E. , Sullivan, Patricia , Ha, Thuong T. , Schwartz, Charles E. , Cowley, Mark J. , Dinger, Marcel E. , Palmer, Elizabeth E. , Christie, Louise , Shaw, Marie , Roscioli, Tony , Hackett, Anna , Gecz, Jozef , Corbett, MA , Kayumi, Sayaka , Shoubridge, Cheryl A. , Ewans, Lisa J. , Ivancevic, Atma M. , Dudding-Byth, Tracy , Carroll, Renée , Kroes, Thessa
- Resource Type: journal article
- Date: 2021
Outcomes of Teacher Professional Development and Learning in Addressing Challenging Behaivour in Vietnamese Students with Intellectual Disability: A Pilot Study
- Creator: Pham, Thi Quynh Ni , Arthur-Kelly, Michael , Foggett, Judith , Lyons, Gordon
- Resource Type: journal article
- Date: 2021
De novo variants in CNOT1, a central component of the CCR4-NOT complex involved in gene expression and RNA and protein stability, cause neurodevelopmental delay
- Creator: Vissers, Lisenka E. L. M. , Kalvakuri, Sreehari , de Boer, Elke , Geuer, Sinje , Oud, Machteld , van Outersterp, Inge , Kwint, Michael , Witmond, Melde , Kersten, Simone , Polla, Daniel L. , Weijers, Dilys , Begtrup, Amber , McWalter, Kristy , Ruiz, Anna , Gabau, Elisabeth , Morton, Jenny E. V. , Griffith, Christopher , Weiss, Karin , Gamble, Candace , Bartley, James , Goel, Himanshu
- Resource Type: journal article
- Date: 2020
Epilepsy phenotype in individuals with chromosomal duplication encompassing FGF12
- Creator: Willemsen, Marjolein H. , Goel, Himanshu , Verhoeven, Judith S. , Braakman, Hilde M. H. , de Leeuw, Nicole , Freeth, Alison , Minassian, Berge A.
- Resource Type: journal article
- Date: 2020
Travelling with two: balancing identity and risk in mothers with intellectual disability
- Creator: Williams, Namira Edwina
- Resource Type: thesis
- Date: 2020
Expanding the phenotype of intellectual disability caused by HIVEP2 variants
- Creator: Goldsmith, Heidi , Wells, Anna , Sá, Maria J. N. , Williams, Mark , Heussler, Helen , Buckman, Melissa , Pfundt, Rolph , de Vries, Bert B. A. , Goel, Himanshu
- Resource Type: journal article
- Date: 2019
Expansion of phenotype of DDX3X syndrome: six new cases
- Creator: Beal, Bryony , Hayes, Ian , Mcgaughran, Julie , Amor, David J. , Miteff, Christina , Jackson, Victoria , van Reyk, Olivia , Subramanian, Gopinath , Hildebrand, Michael S. , Morgan, Angela T. , Goel, Himanshu
- Resource Type: journal article
- Date: 2019
Teacher professional development and learning to support students with intellectual disability and challenging behaviour: a study in special education settings in Vietnam
- Creator: Pham, Thi Quynh Ni
- Resource Type: thesis
- Date: 2019
Teachers attitudes towards use of information communication technology with students with intellectual disability in Saudi Arabian schools
- Creator: Alsawalem, Ibraheem Mohammed N.
- Resource Type: thesis
- Date: 2019
Depression and anxiety symptoms during the transition to early adulthood for people with intellectual disabilities
- Creator: Austin, K. L. , Hunter, M. , Gallagher, E. , Campbell, L. E.
- Resource Type: journal article
- Date: 2018
Disability and madness in colonial asylum records in Australia and New Zealand
- Creator: Coleborne, Catharine
- Resource Type: book chapter
- Date: 2018
Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects
- Creator: Zhao, Yingjie , Guo, Tingwei , Breckpot, Jeroen , Vermeesch, Joris , Chow, Eva W. C. , Gothelf, Doron , Duijff, Sasja , Evers, Rens , van Amelsvoort, Thérèse , van den Bree, Marianne , Owen, Michael , Niarchou, Maria , Fiksinski, Ania , Campbell, Linda , Breetvelt, Elemi , McDonald-McGinn, Donna M. , Crowley, Terrence B. , Diacou, Alexander , Schneider, Maude , Eliez, Stephan , Swillen, Ann
- Resource Type: journal article
- Date: 2018
Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability
- Creator: Dudding-Byth, Tracy , Baxter, Anne , Kleefstra, Tjitske , Ratwatte, Seshika , Riveros, Carlos , Brain, Steve , Lovell, Brian C. , Holliday, Elizabeth G. , Hackett, Anna , O'Donnell, Sheridan , White, Susan M. , Attia, John , Brunner, Han , de Vries, Bert , Koolen, David
- Resource Type: journal article
- Date: 2017
Could I, should I? Parenting aspirations and personal considerations of five young women with 22q11.2 deletion syndrome
- Creator: Phillips, Lisa , Goodwin, Jane , Johnson, Martin P. , Campbell, Linda E.
- Resource Type: journal article
- Date: 2017
Validation of the choking risk assessment and pneumonia risk assessment for adults with Intellectual and Developmental Disability (IDD)
- Creator: Sheppard, Justine Joan , Malandraki, Georgia A. , Pifer, Paula , Cuff, Jill , Troche, Michelle , Hemsley, Bronwyn , Balandin, Susan , Mishra, Avinash , Hochman, Roberta
- Resource Type: journal article
- Date: 2017
A non-coding variant in the 5ʹ UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability
- Creator: Kumar, Raman , Ha, Thuong , Pham, Duyen , Shaw, Marie , Mangelsdorf, Marie , Friend, Kathryn L. , Hobson, Lynne , Turner, Gillian , Boyle, Jackie , Field, Michael , Hackett, Anna , Corbett, Mark , Gecz, Jozef
- Resource Type: journal article
- Date: 2016
Occupational engagement and adults with intellectual disabilities
- Creator: Mahoney, Wanda J. , Roberts, Elysa , Bryze, Kimberly , Kent, Judith A. Parker
- Resource Type: journal article
- Date: 2016