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Author/Creator Bartholomew, Dennis W.

1. Characterization of the renal phenotype in RMND1‐related mitochondrial disease. Issue 12 (30th September 2019)

Authors:
Shayota, Brian J.; Le, Nhon T.; Bekheirnia, Nasim; Rosenfeld, Jill A.; Goldstein, Amy C.; Moritz, Michael; Bartholomew, Dennis W.; Pastore, Matthew T.; Xia, Fan; Eng, Christine; Yang, Yaping; Lamb, Dolores J.; Scaglia, Fernando; Braun, Michael C.; Bekheirnia, Mir Reza
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 7:Issue 12(2019)
Page Start:
n/a
Record Type:
Journal Article
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2. High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation. Issue 11 (21st August 2015)

Authors:
Rojnueangnit, Kitiwan; Xie, Jing; Gomes, Alicia; Sharp, Angela; Callens, Tom; Chen, Yunjia; Liu, Ying; Cochran, Meagan; Abbott, Mary‐Alice; Atkin, Joan; Babovic‐Vuksanovic, Dusica; Barnett, Christopher P.; Crenshaw, Melissa; Bartholomew, Dennis W.; Basel, Lina; Bellus, Gary; Ben‐Shachar, Shay; Bi...
Journal:
Human mutation
Issue:
Volume 36:Issue 11(2015:Nov.)
Page Start:
1052
Record Type:
Journal Article
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4. SRD5A3‐CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features. Issue 12 (2nd August 2016)

Authors:
Wheeler, Patricia G.; Ng, Bobby G.; Sanford, Laura; Sutton, V. Reid; Bartholomew, Dennis W.; Pastore, Matthew T.; Bamshad, Michael J.; Kircher, Martin; Buckingham, Kati J.; Nickerson, Deborah A.; Shendure, Jay; Freeze, Hudson H.
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 12(2016)
Page Start:
3165
Record Type:
Journal Article
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