John J DiGiovanna
6PUBLICATIONS
13CO-AUTHORS
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Publications (6)
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|Sep 14, 2022
Debilitating hip degeneration in trichothiodystrophy: Association with ERCC2/XPD mutations, osteosclerosis, osteopenia, coxa valga, contractures, and osteonecrosis.John J DiGiovanna, Grant Randall, Alexandra Edelman
|Jun 09, 2021
Cockayne syndrome, MEN1, and genomic variants: Exome sequencing is changing our view of the genetic landscape.Sandra R Oska, Deborah Tamura, Jenny E Blau
|Nov 06, 2020
Thyroid nodules in xeroderma pigmentosum patients: a feature of premature aging.S D Kouatcheu, J Marko, D Tamura
|May 09, 2019
Hydroa vacciniforme-like lymphoproliferative disorder: an EBV disease with a low risk of systemic illness in whites.Jeffrey I Cohen, Irini Manoli, Kennichi Dowdell
|May 16, 2017
Molecular diagnosis of xeroderma pigmentosum variant in an isolated population: the interface between precision medicine and public health.D Tamura, S G Khan, J J DiGiovanna
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Frequent Collaborators
5 joint publications
Kenneth H Kraemer
3 joint publications
Sikandar G Khan
2 joint publications
Deborah Tamura
1 joint publications
S D Kouatcheu
1 joint publications
J Marko
1 joint publications
C R Lee
1 joint publications
Jeffrey I Cohen
1 joint publications
Irini Manoli
1 joint publications
Stefania Pittaluga
1 joint publications
Elaine S Jaffe
