Detalhe da pesquisa
1.
"We are not a typical family anymore": Exploring the experiences and support needs of fathers of children with Fragile X syndrome in Australia.
Am J Med Genet A
; 194(4): e63470, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-37974553
2.
RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features.
Am J Hum Genet
; 107(6): 1157-1169, 2020 12 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33159883
3.
Further delineation of dosage-sensitive K/L mediated Xq28 duplication syndrome includes incomplete penetrance.
Clin Genet
; 103(6): 681-687, 2023 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36688272
4.
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.
Am J Hum Genet
; 101(6): 995-1005, 2017 Dec 07.
Artigo
Inglês
| MEDLINE | ID: mdl-29198722
5.
Pre-genetics clinic resource evaluation for adults with intellectual disability: The pre-genetics clinic aid.
J Genet Couns
; 29(4): 668-677, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32246799
6.
THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability.
Am J Hum Genet
; 97(2): 302-10, 2015 Aug 06.
Artigo
Inglês
| MEDLINE | ID: mdl-26166480
7.
Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.
Hum Mol Genet
; 24(25): 7171-81, 2015 Dec 20.
Artigo
Inglês
| MEDLINE | ID: mdl-26443594
8.
The MS4A family: counting past 1, 2 and 3.
Immunol Cell Biol
; 94(1): 11-23, 2016 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-25835430
9.
The Healthcare and Societal Costs of Familial Intellectual Disability.
Int J Environ Res Public Health
; 21(3)2024 Mar 04.
Artigo
Inglês
| MEDLINE | ID: mdl-38541298
10.
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood.
Neurology
; 99(3): e221-e233, 2022 07 19.
Artigo
Inglês
| MEDLINE | ID: mdl-35851549
11.
Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor.
Front Mol Neurosci
; 13: 12, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32116545
12.
Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy.
Eur J Hum Genet
; 25(6): 763-767, 2017 06.
Artigo
Inglês
| MEDLINE | ID: mdl-28295038
13.
Two familial microduplications of 15q26.3 causing overgrowth and variable intellectual disability with normal copy number of IGF1R.
Eur J Med Genet
; 59(4): 257-62, 2016 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-26689622