List of works - Lois J Starr - Paulina

List of works by Lois J Starr

Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome

scientific article published on 14 December 2019

Hb Gibbon [β124(H2)Pro→Thr (HBB: c.373C>A, p.P125T)], an Asymptomatic Novel Hemoglobin Variant Detected by Newborn Screening

scientific article published on 01 May 2019

PIGQ glycosylphosphatidylinositol-anchored protein deficiency: Characterizing the phenotype

scientific article published on 30 May 2019

Patient with anomalous skin pigmentation expands the phenotype of ARID2 loss-of-function disorder, a SWI/SNF-related intellectual disability

scientific article published on 05 March 2019

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