Detalles de la búsqueda
1.
De novo variants in ATP2B1 lead to neurodevelopmental delay.
Am J Hum Genet
; 109(5): 944-952, 2022 05 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35358416
2.
Where there is no genetic counselor: An online decision-aid supports the majority of parents' diagnostic genomic testing choices for their children.
Genet Med
; : 101173, 2024 May 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-38828700
3.
Real-world diagnostic outcomes and cost-effectiveness of genome-wide sequencing for developmental and seizure disorders: Evidence from Canada.
Genet Med
; 26(4): 101069, 2024 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-38205742
4.
A novel online genomic counseling and variant interpretation certificate: Learning design, learning analytics, and evaluation.
J Genet Couns
; 32(6): 1280-1287, 2023 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-37424058
5.
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.
Am J Hum Genet
; 105(3): 631-639, 2019 09 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-31353024
6.
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.
Genet Med
; 19(1): 45-52, 2017 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27195816
7.
Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?
Mol Genet Metab
; 117(1): 42-8, 2016 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-26647175
8.
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.
Eur J Hum Genet
; 31(11): 1251-1260, 2023 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-37644171
9.
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
HGG Adv
; 3(3): 100108, 2022 Jul 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-35599849
10.
Contribution of Multiple Inherited Variants to Autism Spectrum Disorder (ASD) in a Family with 3 Affected Siblings.
Genes (Basel)
; 12(7)2021 07 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-34356069
11.
Improvement of Self-Injury With Dopamine and Serotonin Replacement Therapy in a Patient With a Hemizygous PAK3 Mutation: A New Therapeutic Strategy for Neuropsychiatric Features of an Intellectual Disability Syndrome.
J Child Neurol
; 33(1): 106-113, 2018 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-29246092
Resultados
1 -
11
de 11
1
Próxima >
>>