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David Stevenson

8PUBLICATIONS
24CO-AUTHORS
Haematological tumoursMedical biotechnology diagnostics (incl. biosensors)Infant and child healthNeurology and neuromuscular diseasesEducation assessment and evaluation
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Journal

Publications (8)

Sort by Publication Date:
|Apr 13, 2024
Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant.

Emilia Stellacci, Jennefer N Carter, Luca Pannone

|Nov 29, 2023
Time to diagnosis in rapid exome/genome sequencing in the clinical inpatient setting.

Alison Schildt, David A Stevenson, Linbo Yu

|May 15, 2023
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.

Monica H Wojcik, Siddharth Srivastava, Pankaj B Agrawal

|Dec 03, 2022
Bone health in RASopathies.

David A Stevenson, Germana Viscogliosi, Chiara Leoni

|Jul 02, 2022
Evaluation of the impact of the 2021 revised Neurofibromatosis type 1 diagnostic criteria on time to diagnosis.

Wesley Y Ho, Ellyn Farrelly, David A Stevenson

|May 28, 2022
A survey of program directors for combined pediatrics and medical genetics and genomics residency programs: Perspectives when evaluating applicants.

Annie D Niehaus, Caroline E Rassbach, David A Stevenson

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Frequent Collaborators

2 joint publications

Jonathan A Bernstein

1 joint publications

Akash Kumar

1 joint publications

Diane B Zastrow

1 joint publications

Megan E Grove

1 joint publications

Jennefer N Kohler

1 joint publications

Paul G Fisher

1 joint publications

Joseph T Shieh

1 joint publications

Matthew T Wheeler

1 joint publications

William Dobyns

1 joint publications

Dawn Siegel

Frequent Collaborators

2 joint publications

Jonathan A Bernstein

1 joint publications

Akash Kumar

1 joint publications

Diane B Zastrow

1 joint publications

Megan E Grove

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