Detalles de la búsqueda
1.
Access to clinically indicated genetic tests for pediatric patients with Medicaid: Evidence from outpatient genetics clinics in Texas.
Genet Med
; 25(3): 100350, 2023 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36547467
2.
Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy.
Ann Neurol
; 90(2): 274-284, 2021 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-34185323
3.
Outcomes of prior authorization requests for genetic testing in outpatient pediatric genetics clinics.
Genet Med
; 23(5): 950-955, 2021 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33473204
4.
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.
Hum Mutat
; 41(3): 641-654, 2020 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31769566
5.
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features.
Am J Hum Genet
; 100(4): 676-688, 2017 Apr 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-28343629
6.
De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
Am J Med Genet A
; 182(5): 962-973, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-32031333
7.
Mutation update for the SATB2 gene.
Hum Mutat
; 40(8): 1013-1029, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-31021519
8.
De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.
Am J Hum Genet
; 99(3): 720-727, 2016 09 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27545676
9.
LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV.
Hum Mutat
; 39(12): 1916-1925, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-30084155
10.
Precision therapy for a medically actionable ATP1A3 variant from a genomic medicine program in an underserved population.
Mol Genet Genomic Med
; 11(12): e2272, 2023 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-37614148
11.
Copy neutral absence of heterozygosity on chromosome 15 distal long arm: A surrogate marker for Prader-Willi/Angelman syndromes?
Mol Cytogenet
; 14(1): 37, 2021 Jul 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-34261519
12.
Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Genome Med
; 11(1): 16, 2019 03 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-30909959
13.
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Genome Med
; 11(1): 12, 2019 02 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-30819258
Resultados
1 -
13
de 13
1
Próxima >
>>