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1.
Delineating the phenotype of RNU4ATAC-related spliceosomopathy.
Am J Med Genet A
; 191(4): 1094-1100, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36622817
2.
'Propped and prone' positioning reduces respiratory events in spontaneously breathing preterm infants: A randomised triple crossover study.
J Paediatr Child Health
; 59(1): 81-88, 2023 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36314399
3.
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.
Genet Med
; 24(6): 1283-1296, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-35346573
4.
Delineating the CCDC22-related Ritscher-Schinzel syndrome phenotype in the original family.
Am J Med Genet A
; 188(11): 3324-3330, 2022 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-36073196
5.
Clinical overlap of PHACE and LUMBAR syndromes.
Pediatr Dermatol
; 39(5): 752-756, 2022 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-35896169
6.
Clinical and laboratory reporting impact of ACMG-AMP and modified ClinGen variant classification frameworks in MYH7-related cardiomyopathy.
Genet Med
; 23(6): 1108-1115, 2021 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-33568804
7.
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.
Genet Med
; 23(2): 374-383, 2021 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-33077894
8.
Sleep Disturbance in Older Adults With or Without Mild Cognitive Impairment and Its Associated Factors Residing in Rural Area, China.
J Geriatr Psychiatry Neurol
; 34(6): 632-641, 2021 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-33107376
9.
Cerebellar ataxia with normal intellect associated with a homozygous truncating variant in CA8.
Clin Genet
; 97(3): 516-520, 2020 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31693170
10.
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.
JAMA
; 323(24): 2503-2511, 2020 06 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-32573669
11.
Military Teleconsultation Services Facilitate Prompt Recognition and Treatment of a Case of Syphilitic Uveitis Aboard a United States Navy Aircraft Carrier at Sea During Combat Operations Without Evacuation Capability.
Telemed J E Health
; 26(6): 821-826, 2020 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-31502943
12.
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.
Hum Mutat
; 40(3): 267-280, 2019 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-30520571
13.
Arginase-1 deficiency in neural cells does not contribute to neurodevelopment or functional outcomes after sciatic nerve injury.
Neurochem Int
; 145: 104984, 2021 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33561495
14.
Client attachment orientations, working alliances, and responses to therapy: a psychology training clinic study.
Psychother Res
; 20(6): 702-11, 2010 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-21154028
15.
LASIK flap stability after severe ocular injury.
Am J Ophthalmol Case Rep
; 18: 100608, 2020 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-32083225
16.
Rapid Identification of Biallelic SPTB Mutation in a Neonate with Severe Congenital Hemolytic Anemia and Liver Failure.
Mol Syndromol
; 11(1): 50-55, 2020 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-32256302
17.
Resilience and affect balance of empty-nest older adults with mild cognitive impairment in poor rural areas of Hunan province, China.
Geriatr Gerontol Int
; 19(3): 222-227, 2019 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-30706664
18.
Efficacy of a Bicistronic Vector for Correction of Sandhoff Disease in a Mouse Model.
Mol Ther Methods Clin Dev
; 12: 47-57, 2019 Mar 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-30534578
19.
Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing.
Eur J Hum Genet
; 27(12): 1821-1826, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31358953
20.
Transplantation of Gene-Edited Hepatocyte-like Cells Modestly Improves Survival of Arginase-1-Deficient Mice.
Mol Ther Nucleic Acids
; 10: 122-130, 2018 Mar 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-29499927