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Author/Creator Gubbels, Cynthia S.

1. A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing. Issue 4 (5th February 2020)

Authors:
D'Gama, Alissa M.; Brucker, William J.; Zhang, Tian; Gubbels, Cynthia S.; Ferdinandusse, Sacha; Shi, Jiahai; Grant, Patricia Ellen; VanNoy, Grace; Genetti, Casie A.; Juusola, Jane; Yu, Timothy W.; Kritzer, Amy; Agrawal, Pankaj B.
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 4(2020)
Page Start:
780
Record Type:
Journal Article
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2. BRAT1 mutations present with a spectrum of clinical severity. Issue 9 (9th June 2016)

Authors:
Srivastava, Siddharth; Olson, Heather E.; Cohen, Julie S.; Gubbels, Cynthia S.; Lincoln, Sharyn; Davis, Brigette Tippin; Shahmirzadi, Layla; Gupta, Siddharth; Picker, Jonathan; Yu, Timothy W.; Miller, David T.; Soul, Janet S.; Poretti, Andrea; Naidu, SakkuBai
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 9(2016)
Page Start:
2265
Record Type:
Journal Article
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4. International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow‐up. Issue 2 (17th November 2016)

Authors:
Welling, Lindsey; Bernstein, Laurie E.; Berry, Gerard T.; Burlina, Alberto B.; Eyskens, François; Gautschi, Matthias; Grünewald, Stephanie; Gubbels, Cynthia S.; Knerr, Ina; Labrune, Philippe; van der Lee, Johanna H.; MacDonald, Anita; Murphy, Elaine; Portnoi, Pat A.; Õunap, Katrin; Potter, Nancy ...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 40:Issue 2(2017)
Page Start:
171
Record Type:
Journal Article
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5. Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms. Issue 10 (14th September 2021)

Authors:
Yabumoto, Megan; Kianmahd, Jessica; Singh, Meghna; Palafox, Maria F.; Wei, Angela; Elliott, Kathryn; Goodloe, Dana H.; Dean, S. Joy; Gooch, Catherine; Murray, Brianna K.; Swartz, Erin; Schrier Vergano, Samantha A.; Towne, Meghan C.; Nugent, Kimberly; Roeder, Elizabeth R.; Kresge, Christina; Pletc...
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 9:Issue 10(2021)
Page Start:
n/a
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

6. Primary ovarian insufficiency in classic galactosemia: role of FSH dysfunction and timing of the lesion. Issue 1 (23rd June 2012)

Authors:
Gubbels, Cynthia S.; Land, Jolande A.; Evers, Johannes L. H.; Bierau, Jörgen; Menheere, Paul P. C. A.; Robben, Simon G. F.; Rubio‐Gozalbo, M. Estela
Journal:
Journal of inherited metabolic disease
Issue:
Volume 36:Issue 1(2013)
Page Start:
29
Record Type:
Journal Article
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7. The male reproductive system in classic galactosemia: cryptorchidism and low semen volume. Issue 5 (11th October 2012)

Authors:
Gubbels, Cynthia S.; Welt, Corrine K.; Dumoulin, John C. M.; Robben, Simon G. F.; Gordon, Catherine M.; Dunselman, Gerard A. J.; Rubio‐Gozalbo, M. Estela; Berry, Gerard T.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 36:Issue 5(2013)
Page Start:
779
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗