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3341. A recurrent de novo missense mutation in UBTF causes developmental neuroregression. (2nd January 2018)

Authors:
Toro, Camilo; Hori, Roderick T; Malicdan, May Christine V; Tifft, Cynthia J; Goldstein, Amy; Gahl, William A; Adams, David R; Fauni, Harper B; Wolfe, Lynne A; Xiao, Jianfeng; Khan, Mohammad M; Tian, Jun; Hope, Kevin A; Reiter, Lawrence T; Tremblay, Michel G; Moss, Tom; Franks, Alexis L; Balak, Ch...
Journal:
Human molecular genetics
Issue:
Volume 27:Number 4(2018:Feb. 15)
Page Start:
691
Record Type:
Journal Article
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3342. A recurrent de novo missense mutation in UBTF causes developmental neuroregression. (2nd January 2018)

Authors:
Toro, Camilo; Hori, Roderick T; Malicdan, May Christine V; Tifft, Cynthia J; Goldstein, Amy; Gahl, William A; Adams, David R; Harper, Fauni; Wolfe, Lynne A; Xiao, Jianfeng; Khan, Mohammad M; Tian, Jun; Hope, Kevin A; Reiter, Lawrence T; Tremblay, Michel G; Moss, Tom; Franks, Alexis L; Balak, Chri...
Journal:
Human molecular genetics
Issue:
Volume 27:Number 4(2018:Feb. 15)
Page Start:
691
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3343. A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma. Issue 8 (6th June 2017)

Authors:
Rainger, Joe; Williamson, Kathleen A; Soares, Dinesh C; Truch, Julia; Kurian, Dominic; Gillessen‐Kaesbach, Gabriele; Seawright, Anne; Prendergast, James; Halachev, Mihail; Wheeler, Ann; McTeir, Lynn; Gill, Andrew C; van Heyningen, Veronica; Davey, Megan G; FitzPatrick, David R
Journal:
Human mutation
Issue:
Volume 38:Issue 8(2017)
Page Start:
942
Record Type:
Journal Article
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3344. A Recurrent Loss‐of‐Function Alanyl‐tRNA Synthetase (AARS) Mutation in Patients with Charcot‐Marie‐Tooth Disease Type 2N (CMT2N). Issue 4 (18th February 2014)

Authors:
McLaughlin, Heather M.; Sakaguchi, Reiko; Giblin, William; Wilson, Thomas E.; Biesecker, Leslie; Lupski, James R.; Talbot, Kevin; Vance, Jeffery M.; Züchner, Stephan; Lee, Yi‐Chung; Kennerson, Marina; Hou, Ya‐Ming; Nicholson, Garth; Antonellis, Anthony
Journal:
Human mutation
Issue:
Volume 35:Issue 4(2014:Apr.)
Page Start:
512
Record Type:
Journal Article
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3345. A recurrent single‐exon deletion in TBCK might be under‐recognized in patients with infantile hypotonia and psychomotor delay. Issue 12 (6th November 2022)

Authors:
Dai, Hongzheng; Zhu, Wenmiao; Yuan, Bo; Walley, Nicole; Schoch, Kelly; Jiang, Yong‐Hui; Phillips, John A.; Jones, Melissa S.; Liu, Pengfei; Murdock, David R.; Burrage, Lindsay C.; Lee, Brendan; Rosenfeld, Jill A.; Xiao, Rui
Journal:
Human mutation
Issue:
Volume 43:Issue 12(2022)
Page Start:
1816
Record Type:
Journal Article
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3346. A reduced transferrin saturation is independently associated with excess morbidity and mortality in older adults with heart failure and incident anemia. (15th June 2020)

Authors:
Ambrosy, Andrew P.; Fitzpatrick, Jesse K.; Tabada, Grace H.; Gurwitz, Jerry H.; Artz, Andrew; Schrier, Stanley L.; Rao, Sunil V.; Reynolds, Kristi; Smith, David H.; Peterson, Pamela N.; Fortmann, Stephen P.; Sung, Sue Hee; Cohen, Harvey Jay; Go, Alan S.
Journal:
International journal of cardiology
Issue:
Volume 309(2020)
Page Start:
95
Record Type:
Journal Article
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3348. A Regional ADHD Center-Based Network Project for the Diagnosis and Treatment of Children and Adolescents With ADHD. Issue 12 (October 2018)

Authors:
Bonati, Maurizio; Reale, Laura; Zanetti, Michele; Cartabia, Massimo; Fortinguerra, Filomena; Capovilla, Giuseppe; Chiappedi, Matteo; Costantino, Antonella; Effedri, Paola; Luoni, Chiara; Martinelli, Ottaviano; Molteni, Massimo; Ottolini, Alberto; Saccani, Monica
Journal:
Journal of attention disorders
Issue:
Volume 22:Issue 12(2018)
Page Start:
1173
Record Type:
Journal Article
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