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1.
Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care.
Am J Hum Genet
; 108(7): 1231-1238, 2021 07 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34089648
2.
Applying data science methodologies with artificial intelligence variant reinterpretation to map and estimate genetic disorder prevalence utilizing clinical data.
Am J Med Genet A
; 194(5): e63505, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38168469
3.
A homozygous Gly470Ala variant in PEX6 causes severe Zellweger spectrum disorder.
Am J Med Genet A
; 191(8): 2057-2063, 2023 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-37144748
4.
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.
J Med Genet
; 59(7): 697-705, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-34321323
5.
Multiplatform molecular analyses refine classification of gliomas arising in patients with neurofibromatosis type 1.
Acta Neuropathol
; 144(4): 747-765, 2022 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-35945463
6.
Hemimegalencephaly and intractable seizures associated with the NPRL3 gene variant in a newborn: A case report.
Am J Med Genet A
; 185(7): 2126-2130, 2021 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-33749980
7.
Does a picture speak louder than words? The role of infographics as a concussion education strategy.
J Vis Commun Med
; 42(3): 102-113, 2019 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-31056987
8.
De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features.
Am J Med Genet A
; 176(9): 1845-1851, 2018 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-30055086
9.
Identifying and Addressing Genetic Counseling Challenges among Indigenous People of Oaxaca-One Center's Experience with Two Immigrant Farmworker Families in the Central Valley of California.
J Genet Couns
; 27(4): 996-1004, 2018 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-29397479
10.
De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism.
Neurogenetics
; 17(1): 43-9, 2016 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-26576547
11.
Legislative responses to wrongful conviction: Do partisan principals and advocacy efforts influence state-level criminal justice policy?
Soc Sci Res
; 52: 147-60, 2015 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-26004454
12.
Assessing Mobile Phone Access and Perceptions for Texting-Based mHealth Interventions Among Expectant Mothers and Child Caregivers in Remote Regions of Northern Kenya: A Survey-Based Descriptive Study.
JMIR Public Health Surveill
; 3(1): e5, 2017 Jan 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-28137702
13.
Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration.
Neuron
; 93(1): 115-131, 2017 Jan 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-28017472
14.
Deadly professions: violent attacks against aid-workers and the health implications for local populations.
Int J Health Policy Manag
; 2(2): 65-7, 2014 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-24639979
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