Torthaí cuardaigh - Małgorzata J.M. Nowaczyk
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Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): A review of 53 CdLS pregnancies
Foilsithe / Cruthaithe 2012Faigh an téacs iomlán Faigh an téacs iomlánRevisão -
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Identifying Smith–Lemli–Opitz syndrome in conjunction with prenatal screening for Down syndrome
Foilsithe / Cruthaithe 2006Faigh an téacs iomlán Faigh an téacs iomlánArtigo -
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SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant
Foilsithe / Cruthaithe 2013Faigh an téacs iomlánArtigo -
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Absence of a Paternally Inherited FOXP2 Gene in Developmental Verbal Dyspraxia
Foilsithe / Cruthaithe 2006Faigh an téacs iomlánArtigo -
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Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis
Foilsithe / Cruthaithe 2016Faigh an téacs iomlán Faigh an téacs iomlánArtigo -
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Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome
Foilsithe / Cruthaithe 2012Faigh an téacs iomlán Faigh an téacs iomlánArtigo -
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De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
Foilsithe / Cruthaithe 2012Faigh an téacs iomlánArtigo -
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Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases
Foilsithe / Cruthaithe 2014Faigh an téacs iomlán Faigh an téacs iomlánArtigo -
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A dyadic approach to the delineation of diagnostic entities in clinical genomics
Foilsithe / Cruthaithe 2021Faigh an téacs iomlánRevisão -
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Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome
Foilsithe / Cruthaithe 2020Faigh an téacs iomlánArtigo