Detalhe da pesquisa
1.
Long-read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development.
Am J Med Genet A
; 194(5): e63522, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38131126
2.
Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.
Hum Mol Genet
; 26(9): 1706-1715, 2017 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28334793
3.
Expansion of the clinical phenotype of the distal 10q26.3 deletion syndrome to include ataxia and hyperemia of the hands and feet.
Am J Med Genet A
; 173(6): 1611-1619, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28432728
4.
Group genetic counseling: An alternate service delivery model in a high risk prenatal screening population.
Prenat Diagn
; 37(11): 1112-1119, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28873215
5.
Noninvasive Prenatal Detection of Trisomy 21 by Targeted Semiconductor Sequencing: A Technical Feasibility Study.
Fetal Diagn Ther
; 42(4): 302-310, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28511174
6.
Peer Observed Interaction and Structured Evaluation (POISE): a Canadian experience with peer supervision for genetic counselors.
J Genet Couns
; 20(2): 204-14, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21203807
7.
Supramaximal Stimulus Intensity as a Diagnostic Tool in Chronic Demyelinating Neuropathy.
Neurosci J
; 2016: 6796270, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27413732
8.
Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C gene.
Eur J Hum Genet
; 23(7): 990-2, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25370039