Detalhe da pesquisa
1.
Preimplantation Genetic Diagnosis Counseling in Autosomal Dominant Polycystic Kidney Disease.
Am J Kidney Dis
; 72(6): 866-872, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-29606500
2.
Genomic characterization of prenatally detected chromosomal structural abnormalities using oligonucleotide array comparative genomic hybridization.
Am J Med Genet A
; 155A(7): 1605-15, 2011 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-21671377
3.
Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: study of two cases and review of the literature.
Am J Med Genet A
; 149A(12): 2788-94, 2009 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-19921640
4.
Variable expression of a novel PLP1 mutation in members of a family with Pelizaeus-Merzbacher disease.
J Child Neurol
; 24(5): 618-24, 2009 May.
Artigo
Inglês
| MEDLINE | ID: mdl-19151366