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1.
Challenges and opportunities for effective delivery of clinical genetic services in the U.S. healthcare system.
Curr Opin Pediatr
; 30(6): 740-745, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-30199404
2.
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
Hum Mutat
; 33(1): 165-79, 2012 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-21948486
3.
Fine mapping of breakpoints in two unrelated patients with rare overlapping interstitial deletions of 9q with mild dysmorphic features.
Am J Med Genet A
; 146A(17): 2234-41, 2008 Sep 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-18666229
4.
Complete monosomy 21 confirmed by FISH and array-CGH.
Am J Med Genet A
; 158A(4): 935-7, 2012 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-22407893
5.
Unusual mosaic karyotype resulting from adjacent 1 segregation of t(11;22): importance of performing skin fibroblast karyotype in patients with unexplained multiple congenital anomalies.
Am J Med Genet
; 113(4): 367-70, 2002 Dec 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-12457409
6.
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.
Am J Hum Genet
; 76(4): 609-22, 2005 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-15739154
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