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Author/Creator Nagamani, Sandesh C. S.

2. Early prediction of phenotypic severity in Citrullinemia Type 1. Issue 9 (30th August 2019)

Authors:
Zielonka, Matthias; Kölker, Stefan; Gleich, Florian; Stützenberger, Nicolas; Nagamani, Sandesh C. S.; Gropman, Andrea L.; Hoffmann, Georg F.; Garbade, Sven F.; Posset, Roland
Other Names:
Sarajlija Adrijan investigator.; Skouma Anastasia investigator.; Schulze Andreas investigator.; Garcia‐Cazorla Angeles investigator.; Melgaard Lund Allan investigator.; Jalan Anil investigator.; Morris Andrew investigator.; Dionisi‐Vici Carlo investigator.; De Laet Corinne investigator.; Leão Tel...
Journal:
Annals of clinical and translational neurology
Issue:
Volume 6:Issue 9(2019)
Page Start:
1858
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Early prediction of phenotypic severity in Citrullinemia Type 1. Issue 9 (30th August 2019)

Authors:
Zielonka, Matthias; Kölker, Stefan; Gleich, Florian; Stützenberger, Nicolas; Nagamani, Sandesh C. S.; Gropman, Andrea L.; Hoffmann, Georg F.; Garbade, Sven F.; Posset, Roland
Other Names:
Sarajlija Adrijan investigator.; Skouma Anastasia investigator.; Schulze Andreas investigator.; Garcia‐Cazorla Angeles investigator.; Lund AM investigator.; Jalan Anil investigator.; Morris Andrew investigator.; Dionisi‐Vici Carlo investigator.; De Laet Corinne investigator.; Leão Teles Elisa inv...
Journal:
Annals of clinical and translational neurology
Issue:
Volume 6:Issue 9(2019)
Page Start:
1858
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria. Issue 5 (30th January 2020)

Authors:
Zielonka, Matthias; Garbade, Sven F.; Gleich, Florian; Okun, Jürgen G.; Nagamani, Sandesh C. S.; Gropman, Andrea L.; Hoffmann, Georg F.; Kölker, Stefan; Posset, Roland
Other Names:
Ah Mew Nicholas investigator.; Burrage Lindsay C. investigator.; Schulze Andreas investigator.; Berry Susan A. investigator.; Baumgartner Matthias R. investigator.; Diaz George A. investigator.; Merritt J. Lawrence investigator.; Bedoyan Jirair K. investigator.; Wong Derek investigator.; Harding ...
Journal:
Human mutation
Issue:
Volume 41:Issue 5(2020)
Page Start:
946
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Health‐related quality of life in adults with osteogenesis imperfecta. Issue 6 (22nd February 2021)

Authors:
Murali, Chaya N.; Slater, Brady; Musaad, Salma; Cuthbertson, David; Nguyen, Dianne; Turner, Alicia; Azamian, Mahshid; Tosi, Laura; Rauch, Frank; Sutton, V. Reid; Lee, Brendan; Nagamani, Sandesh C. S.
Journal:
Clinical genetics
Issue:
Volume 99:Issue 6(2021)
Page Start:
772
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study. Issue 4 (26th December 2019)

Authors:
Machol, Keren; Hadley, Trevor D.; Schmidt, Jake; Cuthbertson, David; Traboulsi, Henri; Silva, Rodrigo C.; Citron, Chloe; Khan, Sobiah; Citron, Kate; Carter, Erin; Brookler, Kenneth; Shapiro, Jay R.; Steiner, Robert D.; Byers, Peter H.; Glorieux, Francis H.; Durigova, Michaela; Smith, Peter; Bober...
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 4(2020)
Page Start:
697
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

7. Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders. Issue 1 (13th May 2019)

Authors:
Posset, Roland; Gropman, Andrea L.; Nagamani, Sandesh C. S.; Burrage, Lindsay C.; Bedoyan, Jirair K.; Wong, Derek; Berry, Gerard T.; Baumgartner, Matthias R.; Yudkoff, Marc; Zielonka, Matthias; Hoffmann, Georg F.; Burgard, Peter; Schulze, Andreas; McCandless, Shawn E.; Garcia‐Cazorla, Angeles; Se...
Other Names:
Lee Brendan investigator.; Harding Cary O. investigator.; Coughlin Curtis R. investigator.; Le Mons Cynthia investigator.; Dobbelaere Dries investigator.; Leão Teles Elisa investigator.; Cortès‐Saladelafont Elisenda investigator.; Gleich Florian investigator.; Eyskens Francois investigator.; Enns...
Journal:
Annals of neurology
Issue:
Volume 86:Issue 1(2019)
Page Start:
116
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

8. Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency. Issue 11 (10th October 2022)

Authors:
Scharre, Svenja; Posset, Roland; Garbade, Sven F.; Gleich, Florian; Seidl, Marie J.; Druck, Ann‐Catrin; Okun, Jürgen G.; Gropman, Andrea L.; Nagamani, Sandesh C. S.; Hoffmann, Georg F.; Kölker, Stefan; Zielonka, Matthias
Other Names:
Ah Mew Nicholas investigator.; Baumgartner Matthias R. investigator.; Berry Gerard T. investigator.; Berry Susan A. investigator.; Burrage Lindsay investigator.; Diaz George A. investigator.; Ficicioglu Can investigator.; Kisin Genya investigator.; Konczal Laura investigator.; Lam Christina inves...
Journal:
Annals of clinical and translational neurology
Issue:
Volume 9:Issue 11(2022)
Page Start:
1715
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗