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Author/Creator Grunewald, Stephanie

22. PERCEPTIONS OF COMPETENCIES AMONG SCHOOL PSYCHOLOGY TRAINERS AND PRACTITIONERS: WHAT MATTERS?. Issue 10 (December 2015)

Authors:
Fenning, Pamela; Diaz, Yahaira; Valley‐Gray, Sarah; Cash, Ralph "Gene"; Spearman, Caroline; Hazel, Cynthia E.; Grunewald, Stephanie; Riccio, Cynthia; Harris, Abigail
Journal:
Psychology in the schools
Issue:
Volume 52:Issue 10(2015)
Page Start:
1032
Record Type:
Journal Article
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23. Phase I/II Trial of Liver–derived Mesenchymal Stem Cells in Pediatric Liver–based Metabolic Disorders: A Prospective, Open Label, Multicenter, Partially Randomized, Safety Study of One Cycle of Heterologous Human Adult Liver–derived Progenitor Cells (HepaStem) in Urea Cycle Disorders and Crigler-Najjar Syndrome Patients. Issue 9 (September 2019)

Authors:
Smets, Françoise; Dobbelaere, Dries; McKiernan, Patrick; Dionisi-Vici, Carlo; Broué, Pierre; Jacquemin, Emmanuel; Lopes, Ana Isabel; Gonçalves, Isabel; Mandel, Hanna; Pawlowska, Joanna; Kamińska, Diana; Shteyer, Eyal; Torre, Giuliano; Shapiro, Riki; Eyskens, François; Clapuyt, Philippe; Gissen, P...
Journal:
Transplantation
Issue:
Volume 103:Issue 9(2019)
Page Start:
Record Type:
Journal Article
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24. Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions. Issue 6 (5th August 2020)

Authors:
Ng, Bobby G.; Eklund, Erik A.; Shiryaev, Sergey A.; Dong, Yin Y.; Abbott, Mary‐Alice; Asteggiano, Carla; Bamshad, Michael J.; Barr, Eileen; Bernstein, Jonathan A.; Chelakkadan, Shabeed; Christodoulou, John; Chung, Wendy K.; Ciliberto, Michael A.; Cousin, Janice; Gardiner, Fiona; Ghosh, Suman; Gra...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 43:Issue 6(2020)
Page Start:
1333
Record Type:
Journal Article
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26. Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases. Issue 6 (20th December 2017)

Authors:
Maas, Roeltje R.; Iwanicka‐Pronicka, Katarzyna; Kalkan Ucar, Sema; Alhaddad, Bader; AlSayed, Moeenaldeen; Al‐Owain, Mohammed A.; Al‐Zaidan, Hamad I.; Balasubramaniam, Shanti; Barić, Ivo; Bubshait, Dalal K.; Burlina, Alberto; Christodoulou, John; Chung, Wendy K.; Colombo, Roberto; Darin, Niklas; F...
Journal:
Annals of neurology
Issue:
Volume 82:Issue 6(2017)
Page Start:
1004
Record Type:
Journal Article
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27. Results from a 78‐week, single‐arm, open‐label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long‐chain fatty acid oxidation disorders (LC‐FAOD). Issue 1 (11th February 2019)

Authors:
Vockley, Jerry; Burton, Barbara; Berry, Gerard T.; Longo, Nicola; Phillips, John; Sanchez‐Valle, Amarilis; Tanpaiboon, Pranoot; Grunewald, Stephanie; Murphy, Elaine; Bowden, Alexandra; Chen, Wencong; Chen, Chao‐Yin; Cataldo, Jason; Marsden, Deborah; Kakkis, Emil
Journal:
Journal of inherited metabolic disease
Issue:
Volume 42:Issue 1(2019)
Page Start:
169
Record Type:
Journal Article
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28. SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. Issue 7 (24th April 2019)

Authors:
Ng, Bobby G.; Sosicka, Paulina; Agadi, Satish; Almannai, Mohammed; Bacino, Carlos A.; Barone, Rita; Botto, Lorenzo D.; Burton, Jennifer E.; Carlston, Colleen; Chung, Brian Hon‐Yin; Cohen, Julie S.; Coman, David; Dipple, Katrina M.; Dorrani, Naghmeh; Dobyns, William B.; Elias, Abdallah F.; Epstein...
Journal:
Human mutation
Issue:
Volume 40:Issue 7(2019)
Page Start:
908
Record Type:
Journal Article
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29. Synergistic use of glycomics and single‐molecule molecular inversion probes for identification of congenital disorders of glycosylation type‐1. Issue 4 (28th March 2022)

Authors:
Abu Bakar, Nurulamin; Ashikov, Angel; Brum, Jaime Moritz; Smeets, Roel; Kersten, Marjan; Huijben, Karin; Keng, Wee Teik; Speck‐Martins, Carlos Eduardo; de Carvalho, Daniel Rocha; de Rizzo, Isabela Maria Pinto Oliveira; de Mello, Walquiria Domingues; Heiner‐Fokkema, Rebecca; Gorman, Kathleen; Grun...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 45:Issue 4(2022)
Page Start:
769
Record Type:
Journal Article
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