Detalhe da pesquisa
1.
Healthcare recommendations for Joubert syndrome.
Am J Med Genet A
; 182(1): 229-249, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31710777
2.
Beyond the Brochure: Innovations in Clinical Counseling Practices for Prenatal Genetic Testing Options.
J Perinat Neonatal Nurs
; 33(1): 12-25, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-30676459
3.
MKS1 regulates ciliary INPP5E levels in Joubert syndrome.
J Med Genet
; 53(1): 62-72, 2016 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-26490104
4.
Chorionic Villus Sampling, Early Amniocentesis, and Termination of Pregnancy Without Diagnostic Testing: Comparison of Fetal Risk Following Positive Non-invasive Prenatal Testing.
J Obstet Gynaecol Can
; 38(5): 441-445.e2, 2016 05.
Artigo
Inglês
| MEDLINE | ID: mdl-27261219
5.
Noninvasive prenatal testing: limitations and unanswered questions.
Genet Med
; 16(4): 281-5, 2014 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-24009001
6.
Maintaining access to maternal fetal medicine care by telemedicine during a global pandemic.
J Telemed Telecare
; 28(8): 583-594, 2022 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-32985379
7.
Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy.
Hum Mol Genet
; 18(7): 1200-8, 2009 Apr 01.
Artigo
Inglês
| MEDLINE | ID: mdl-19139049
8.
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.
Am J Hum Genet
; 83(5): 559-71, 2008 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-18950740
9.
Genetic counseling through hope.
J Genet Couns
; 21(2): 205-6, 2012 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-22160403
10.
Questioning the costs and benefits of non-invasive prenatal testing.
J Matern Fetal Neonatal Med
; 27(6): 633-4, 2014 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-23808328
11.
Improving knowledge about prenatal screening options: can group education make a difference?
J Matern Fetal Neonatal Med
; 26(18): 1799-803, 2013 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-23662746