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1.
Arginine:glycine amidinotransferase (AGAT) deficiency: an easy-to-miss treatable adult-onset myopathy.
Pract Neurol
; 2024 Feb 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-38350728
2.
ImprintSeq, a novel tool to interrogate DNA methylation at human imprinted regions and diagnose multilocus imprinting disturbance.
Genet Med
; 24(2): 463-474, 2022 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-34906518
3.
Further delineation of phenotypic spectrum of SCN2A-related disorder.
Am J Med Genet A
; 188(3): 867-877, 2022 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-34894057
4.
Sociodemographic characteristics associated with parenthood amongst patients with a psychotic diagnosis: a cross-sectional study using patient clinical records.
Soc Psychiatry Psychiatr Epidemiol
; 57(9): 1897-1906, 2022 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-35445841
5.
Parenting and psychosis: An experience sampling methodology study investigating the inter-relationship between stress from parenting and positive psychotic symptoms.
Br J Clin Psychol
; 61(4): 1236-1258, 2022 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-35938517
6.
Isolated- and Beckwith-Wiedemann syndrome related- lateralised overgrowth (hemihypertrophy): Clinical and molecular correlations in 94 individuals.
Clin Genet
; 100(3): 292-297, 2021 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-33993487
7.
Parenting interventions for people with schizophrenia or related serious mental illness.
Cochrane Database Syst Rev
; 10: CD013536, 2021 10 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-34666417
8.
Mental health professionals' experiences of working with parents with psychosis and their families: a qualitative study.
BMC Health Serv Res
; 21(1): 393, 2021 Apr 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-33906656
9.
Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype.
Clin Genet
; 95(4): 496-506, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30666632
10.
FOXP1-related intellectual disability syndrome: a recognisable entity.
J Med Genet
; 54(9): 613-623, 2017 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-28735298
11.
A family perspective on parental psychosis: An interpretative phenomenological analysis study.
Psychol Psychother
; 96(2): 347-363, 2023 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-36463435
12.
Parental health in the context of public family care proceedings: A scoping review of evidence and interventions.
Child Abuse Negl
; 140: 106160, 2023 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-37023580
13.
The Phenotypic Continuum of ATP1A3-Related Disorders.
Neurology
; 99(14): e1511-e1526, 2022 10 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36192182
14.
A Scoping Review of Interventions Designed to Support Parents With Mental Illness That Would Be Appropriate for Parents With Psychosis.
Front Psychiatry
; 12: 787166, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-35153857
15.
Evaluating 'Enhancing Pragmatic Language skills for Young children with Social communication impairments' (E-PLAYS): a feasibility cluster-randomised controlled trial.
Pilot Feasibility Stud
; 7(1): 5, 2021 Jan 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33390188
16.
Evaluating 'enhancing pragmatic language skills for young children with social communication impairments' (E-PLAYS): protocol for a feasibility randomised controlled trial study.
Pilot Feasibility Stud
; 5: 75, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31198579
17.
Is 15q11.2 microdeletion associated with periventricular nodular heterotopia?
Clin Dysmorphol
; 24(4): 156-8, 2015 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-26241618
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