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1.
Broadening the phenotypic spectrum of EVEN-PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype.
Am J Med Genet A
; 188(9): 2819-2824, 2022 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-35779070
2.
CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype.
Genet Med
; 20(8): 882-889, 2018 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-29446767
3.
Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium.
Hum Mol Genet
; 24(14): 4126-37, 2015 Jul 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-25908617
4.
Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations.
Am J Med Genet A
; 161A(6): 1354-69, 2013 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-23613367
5.
Array CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms Tumor.
PLoS One
; 10(8): e0136812, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-26317783
6.
PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.
Eur J Hum Genet
; 23(12): 1615-26, 2015 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-25853300
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