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Authors whose works are in public domain in at least one jurisdiction

List of works by Ruthann I Blough-Pfau

Acute leukemia

scientific article

Billing for medical genetics and genetic counseling services: a national survey

scientific article published on 07 October 2009

CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders

scientific article published on 02 March 2019

Characterization of the practice and attitudes of genetic counselors with doctoral degrees

scientific article published on 3 February 2007

De novo loss-of-function variants in NSD2 (WHSC1) associate with a subset of Wolf-Hirschhorn syndrome

scientific article published on 01 August 2019

Dilated ascending aorta in a child with ring chromosome 21 syndrome

scientific article published in October 2004

Disease-Associated Mosaic Variation in Clinical Exome Sequencing: A Two Year Pediatric Tertiary Care Experience

scientific article published on 05 May 2020

Duplication of the Xq27.3–q28 region, including the FMR1 gene, in an X‐linked hypogonadism, gynecomastia, intellectual disability, short stature, and obesity syndrome ⬇️

scientific article published on July 29, 2013

Genetic Characterization of Pediatric Sarcomas by Targeted RNA Sequencing

scientific article published on 31 July 2020

Genetic counselors and research: current practices and future directions

scientific article published on November 2006

MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation

scientific article published on 27 September 2013

Pericentromeric regions of homozygosity on the X chromosome: Another likely benign population variant

scientific article published on 20 March 2018

The diagnostic challenges and clinical course of a myeloid/lymphoid neoplasm with eosinophilia and ZBTB20-JAK2 gene fusion presenting as B-lymphoblastic leukemia

scientific article published on 01 April 2020

Unexpected survival in a case of prenatally diagnosed non-mosaic trisomy 22: Clinical report and review of the natural history

scientific article published on 01 April 2003

Upper airway malformation associated with partial trisomy 11q.

scientific article published in July 2003

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