Detalhe da pesquisa
1.
Dual diagnosis of autosomal dominant polycystic kidney disease and sickle cell disease in a teenage male.
Pediatr Nephrol
; 38(9): 3189-3192, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-36646975
2.
The State of Newborn Screening in South Dakota.
S D Med
; 75(11): 509-512, 2022 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-36893029
3.
Genesurance counseling: Current training practices of genetic counseling graduate programs in the United States.
J Genet Couns
; 30(6): 1757-1766, 2021 12.
Artigo
Inglês
| MEDLINE | ID: mdl-34265129
4.
Geographical analysis of the distribution of certified genetic counselors in the United States.
J Genet Couns
; 30(2): 448-456, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-32929835
5.
Perspectives of Pediatric Providers Regarding Clinical Use of Pharmacogenetics.
S D Med
; 74(7): 294-301, 2021 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-34449988
6.
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Am J Hum Genet
; 101(5): 664-685, 2017 Nov 02.
Artigo
Inglês
| MEDLINE | ID: mdl-29100083
7.
Genetic counseling job market in the United States and Canada: An analysis of job advertisements 2014-2016.
J Genet Couns
; 28(4): 869-877, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-31058406
8.
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
Am J Med Genet A
; 176(4): 925-935, 2018 04.
Artigo
Inglês
| MEDLINE | ID: mdl-29436146
9.
Experiences of Genetic Counselors Practicing in Rural Areas.
J Genet Couns
; 27(1): 140-154, 2018 02.
Artigo
Inglês
| MEDLINE | ID: mdl-28831644
10.
Genesurance Counseling: Patient Perspectives.
J Genet Couns
; 27(4): 814-822, 2018 08.
Artigo
Inglês
| MEDLINE | ID: mdl-29350312
11.
Genesurance Counseling: Genetic Counselors' Roles and Responsibilities in Regards to Genetic Insurance and Financial Topics.
J Genet Couns
; 27(4): 800-813, 2018 08.
Artigo
Inglês
| MEDLINE | ID: mdl-29204809
12.
Genetic Counseling in Pediatrics.
Pediatr Rev
; 39(7): 323-331, 2018 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-29967077
13.
Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.
Am J Hum Genet
; 94(4): 547-58, 2014 Apr 03.
Artigo
Inglês
| MEDLINE | ID: mdl-24656866
14.
Analysis of Reimbursement of Genetic Counseling Services at a Single Institution in a State Requiring Licensure.
J Genet Couns
; 26(4): 852-858, 2017 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-28181058
15.
An Exploration of Genetic Test Utilization, Genetic Counseling, and Consanguinity within the Inborn Errors of Metabolism Collaborative (IBEMC).
J Genet Couns
; 26(6): 1238-1243, 2017 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-28451876
16.
Case Report of Infant With Features of Beckwith-Wiedemann Syndrome Diagnosed With Genome-wide Uniparental Disomy.
S D Med
; 70(11): 505-509, 2017 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-29088522
17.
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Am J Hum Genet
; 90(1): 133-41, 2012 Jan 13.
Artigo
Inglês
| MEDLINE | ID: mdl-22209245
18.
Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing.
Am J Med Genet A
; 167A(5): 1026-32, 2015 May.
Artigo
Inglês
| MEDLINE | ID: mdl-25885067
19.
Congenital nasal pyriform aperture stenosis and ocular albinism co-occurring in a sibship with a maternally-inherited 97 kb Xp22.2 microdeletion.
Am J Med Genet A
; 164A(5): 1268-71, 2014 May.
Artigo
Inglês
| MEDLINE | ID: mdl-24478262
20.
Identification of a founder mutation for maple syrup urine disease in Hutterites.
S D Med
; 67(4): 141-3, 2014 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-24791375