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1.
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med
; 21(3): 764-765, 2019 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-30275510
2.
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med
; 21(4): 867-876, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30190611
3.
Identification of complex chromosome 18 rearrangements by FISH and array CGH in two patients with apparent isochromosome 18q.
Am J Med Genet A
; 155A(6): 1465-8, 2011 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-21567909
4.
Catel-Manzke Syndrome: Further Delineation of the Phenotype Associated with Pathogenic Variants in TGDS.
Mol Genet Metab Rep
; 4: 89-91, 2015 Sep 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-26366375
5.
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region.
Genet Med
; 9(7): 427-41, 2007 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-17666889
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