Detalhe da pesquisa
1.
Rare presentation of FDX2-related disorder and untargeted global metabolomics findings.
Am J Med Genet A;
188(4): 1239-1244, 2022 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34905296
2.
Differences in genetic counseling student responses to intense patient affect: A study of students in North American programs.
J Genet Couns;
31(2): 398-410, 2022 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34514687
3.
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.
Am J Hum Genet;
102(5): 744-759, 2018 05 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29656859
4.
Genetic counselor use of self-involving responses in a clinical setting: A qualitative investigation.
J Genet Couns;
30(6): 1598-1612, 2021 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33938073
5.
Infantile gangliosidoses: Mapping a timeline of clinical changes.
Mol Genet Metab;
121(2): 170-179, 2017 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28476546
6.
Neuroblastoma in a 17-week fetus: a stimulus for investigation of tumors in a series of 2786 stillbirth and late miscarriages.
Am J Med Genet A;
167A(1): 246-9, 2015 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25339601
7.
Clearing the Air: A Qualitative Investigation of Genetic Counselors' Experiences of Counselor-Focused Patient Anger.
J Genet Couns;
24(5): 717-31, 2015 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25651823
8.
Radiographic evaluation of stillbirth: what does it contribute?
Am J Med Genet A;
164A(9): 2270-5, 2014 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25044692
9.
Delineating the expanding phenotype associated with SCAPER gene mutation.
Am J Med Genet A;
179(8): 1665-1671, 2019 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31192531
10.
Genetic developmental disability diagnosed in adulthood: a case report.
J Med Case Rep;
15(1): 28, 2021 Jan 25.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33494837