Another case of nuclear speckleopathy due to a novel NKAP pathogenic variant
- Creator: Goel, Himanshu , O'Donnell, Sheridan , Roscioli, Tony , Hart, Francesca
- Resource Type: journal article
- Date: 2024
Designing the Food and Lifestyle Information Program (FLIP) culinary nutrition intervention for adults with mild-to-moderate intellectual disability
- Creator: Asher, Roberta C. , Shrewsbury, Vanessa A. , Innes, Beth , Fitzpatrick, Arron , Simmonds, Sarah , Collins, Clare E.
- Resource Type: journal article
- Date: 2024
Development of a culinary nutrition education program for adults with mild-to-moderate intellectual disability
- Creator: Asher, Roberta Callista
- Resource Type: thesis
- Date: 2024
Feasibility and acceptability of a culinary nutrition programme for adults with mild-to-moderate intellectual disability: FLIP Food and Lifestyle Information Programme
- Creator: Asher, R. C. , Shrewsbury, V. A. , Innes, B. , Fitzpatrick, A. , Simmonds, S. , Cross, V. , Rose, A. , Hinton, E. , Collins, C. E.
- Resource Type: journal article
- Date: 2024
Speech and language in DDX3X-neurodevelopmental disorder: A call for early augmentative and alternative communication intervention
- Creator: Forbes, Elana J. , Morison, Lottie D. , Morgan, Angela T. , Lelik, Fatma , Howell, Tegan , Debono, Simone , Goel, Himanshu , Burger, Pauline , Mandel, Jean-Louis , Geneviève, David , Amor, David J.
- Resource Type: journal article
- Date: 2024
The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants
- Creator: Furia, Francesca , Levy, Amanda M. , Dean, Sarah Joy , Egense, Alena , Goel, Himanshu , Guenzel, Adam J. , Hüffmeier, Ulrike , Legius, Eric , Mancini, Grazia M. S. , Marcos-Alcalde, Iñigo , Niclass, Tanguy , Planes, Marc , Theunis, Miel , Redon, Sylvia , Ros-Pardo, D , Rouault, K , Schot, R , Schuhmann, S , Shen, JJ , Tao, AM , Thiffault, I , Van Esch, H , Wentzensen, IM , Bamshad, Michael J. , Barakat, TS , Møller, RS , Gomez-Puertas, P , Chung, WK , Gardella, E , Tümer, Z , Bartos, Meghan N. , Bijlsma, Emilia K. , Brancati, Francesco , Cejudo, Lucile , Chong, Jessica X. , De Luca, Chiara
- Resource Type: journal article
- Date: 2024
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
IQSEC2 mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy
- Creator: Shoubridge, Cheryl , Harvey, Robert J. , Dudding-Byth, Tracy
- 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
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
- Creator: van der Sluijs, Pleuntje J. , Jansen, Sandra , Bijlsma, Emilia K. , Eichler, E , Pfundt, R , de Vries, BBA , Clayton-Smith, J , Santen, GWE , Bok, Levinus A. , Brouwer, Alwin F. J. , van der Burgt, Ineke , Campeau, Philippe M. , Canham, Natalie , Chrzanowska, Krystyna , Chu, Yoyo W. Y. , Chung, Brain H. Y. , Dahan, Karin , Vergano, Samantha A. , De Rademaeker, Marjan , Destree, A , Dudding-Byth, Tracy , Earl, R , Elcioglu, N , Elias, ER , Fagerberg, C , Gardham, A , Gener, B , Gerkes, EH , Adachi-Fukuda, Miho , Grasshoff, U , van Haeringen, A , Heitink, KR , Herkert, JC , den Hollander, NS , Horn, D , Hunt, D , Kant, SG , Kato, M , Kayserili, H , Alanay, Yasemin , Kersseboom, R , Kilic, E , Krajewska-Walasek, M , Lammers, K , Laulund, LW , Lederer, D , Lees, M , Lopez-Gonzalez, V , Maas, S , Mancini, GMS , AlKindy, Adila , Marcelis, C , Martinez, F , Maystadt, I , McGuire, M , McKee, S , Mehta, S , Metcalfe, K , Milunsky, J , Mizuno, S , Moeschler, JB , Baban, Anwar , Netzer, C , Ockeloen, CW , Oehl-Jaschkowitz, B , Okamoto, N , Olminkhof, SNM , Orellana, C , Pasquier, L , Pottinger, C , Riehmer, V , Robertson, SP , Bayat, Allan , Roifman, M , Rooryck, C , Ropers, FG , Rosello, M , Ruivenkamp, CAL , Sagiroglu, MS , Sallevelt, SCEH , Sanchis Calvo, A , Simsek-Kiper, PO , Soares, G , Beck-Woedl, Stefanie , Solaeche, L , Sonmez, FM , Splitt, M , Steenbeek, D , Stegmann, APA , Stumpel, CTRM , Tanabe, S , Uctepe, E , Utine, GE , Veenstra-Knol, HE , Berry, Katherine , Venkateswaran, S , Vilain, C , Vincent-Delorme, C , Vulto-van Silfhout, AT , Wheeler, P , Wilson, GN , Wilson, LC , Wollnik, B , Kosho, T , Wieczorek, D
- Resource Type: journal article
- Date: 2019