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Publications by R D Jefferson

A Terminal Deletion of the Long Arm of Chromosome 4 [46,XX,del(4)(q33)] in an Infant With Phenotypic Features of Williams Syndrome.

Journal of Medical Genetics

English

Related publications

Interstitial Deletion of the Long Arm of Chromosome 5 in a Deformed Boy: 46,XY,del(5)(q13q15).

Journal of Medical Genetics

English

Case Report: Early Aortic Valve Degeneration Associated With Interstitial Deletion of Chromosome 2–46,XX,del (2)(q31.3; Q32.2)

Journal of Cardiothoracic Surgery

Cardiovascular Medicine

Respiratory Medicine

English

Interstitial Deletion of the Long Arm of Chromosome 2 With Normal Levels of Isocitrate Dehydrogenase.

Journal of Medical Genetics

English

Deletion 2q: Two New Cases With Karyotypes 46,XY,del(2)(q31q33) and 46,XX,del(2)(q36).

Journal of Medical Genetics

English

De Novo T(X;21)(q28;q11) in a Girl With Phenotypic Features of Williams-Beuren Syndrome.

Journal of Medical Genetics

English

Terminal Deletion of the Chromosome 4q With Hemivertebra: Case Report

English

Interstitial Deletion of the Long ARM of Chromosome 2: A Dose Study on Isocitrate Dehydrogenase 1

Japanese journal of human genetics

English

Neonate With 10q Interstitial Deletion Within the Long Arm of Chromosome 10- A Case Report and Literature Review

International Journal of Case Reports

English

Interstitial Deletion of the Long Arm of Chromosome 11: Report of a Case and Review of the Literature

Japanese Journal of Human Genetics

English