Detalhe da pesquisa
1.
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.
Am J Hum Genet
; 104(2): 203-212, 2019 02 07.
Artigo
Inglês
| MEDLINE | ID: mdl-30612693
2.
Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements.
Am J Hum Genet
; 101(2): 206-217, 2017 Aug 03.
Artigo
Inglês
| MEDLINE | ID: mdl-28735859
3.
Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study.
Am J Med Genet A
; 173(6): 1539-1545, 2017 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-28332275
4.
Detecting celiac disease in patients with Down syndrome.
Am J Med Genet A
; 170(12): 3098-3105, 2016 12.
Artigo
Inglês
| MEDLINE | ID: mdl-27605215
5.
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
N Engl J Med
; 367(14): 1321-31, 2012 Oct 04.
Artigo
Inglês
| MEDLINE | ID: mdl-22970919
6.
National down syndrome patient database: Insights from the development of a multi-center registry study.
Am J Med Genet A
; 167A(11): 2520-6, 2015 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-26249752
7.
Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS.
Am J Hum Genet
; 86(3): 462-70, 2010 Mar 12.
Artigo
Inglês
| MEDLINE | ID: mdl-20188345
8.
Noninvasive prenatal testing/noninvasive prenatal diagnosis: the position of the National Society of Genetic Counselors.
J Genet Couns
; 22(3): 291-5, 2013 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-23334531
9.
Balanced information about Down syndrome: what is essential?
Am J Med Genet A
; 155A(6): 1246-57, 2011 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-21548127
10.
The relationship between the genetic counseling profession and the disability community: a commentary.
Am J Med Genet A
; 155A(8): 1777-85, 2011 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-21567935
11.
Practice guidelines for communicating a prenatal or postnatal diagnosis of Down syndrome: recommendations of the national society of genetic counselors.
J Genet Couns
; 20(5): 432-41, 2011 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-21618060
12.
What I wish I knew then...reflections from personal experiences in counseling about Down syndrome.
J Genet Couns
; 16(6): 731-4, 2007 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-17694396
13.
Información equilibrada sobre el síndrome de Down: ¿Qué es lo esencial? / No disponible
Rev. Síndr. Down
; 29(112): 2-7, mar. 2012. tab
Artigo
Espanhol
| IBECS (Espanha) | ID: ibc-101983
14.
Información equilibrada sobre el síndrome de Down: ¿Qué es lo esencial? / No disponible
Rev. Síndr. Down
; 28(110): 86-101, sept. 2011. tab
Artigo
Espanhol
| IBECS (Espanha) | ID: ibc-101967