Search

Author/Creator Koenig, Mary K.

1. BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder. Issue 5 (7th February 2020)

Authors:
Scott, Tiana M.; Guo, Hui; Eichler, Evan E.; Rosenfeld, Jill A.; Pang, Kaifang; Liu, Zhandong; Lalani, Seema; Bi, Weimin; Yang, Yaping; Bacino, Carlos A.; Streff, Haley; Lewis, Andrea M.; Koenig, Mary K.; Thiffault, Isabelle; Bellomo, Allison; Everman, David B.; Jones, Julie R.; Stevenson, Roger ...
Journal:
Human mutation
Issue:
Volume 41:Issue 5(2020)
Page Start:
921
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Heterozygous variants in SPTBN1 cause intellectual disability and autism. Issue 7 (13th April 2021)

Authors:
Rosenfeld, Jill A.; Xiao, Rui; Bekheirnia, Mir Reza; Kanani, Farah; Parker, Michael J.; Koenig, Mary K.; van Haeringen, Arie; Ruivenkamp, Claudia; Rosmaninho‐Salgado, Joana; Almeida, Pedro M.; Sá, Joaquim; Pinto Basto, Jorge; Palen, Emily; Oetjens, Kathryn F.; Burrage, Lindsay C.; Xia, Fan; Liu, ...
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 7(2021)
Page Start:
2037
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. RARS1‐related hypomyelinating leukodystrophy: Expanding the spectrum. Issue 1 (8th December 2019)

Authors:
Mendes, Marisa I.; Green, Lydia M. C.; Bertini, Enrico; Tonduti, Davide; Aiello, Chiara; Smith, Desiree; Salsano, Ettore; Beerepoot, Shanice; Hertecant, Jozef; von Spiczak, Sarah; Livingston, John H.; Emrick, Lisa; Fraser, Jamie; Russell, Laura; Bernard, Genevieve; Magri, Stefania; Di Bella, Dani...
Journal:
Annals of clinical and translational neurology
Issue:
Volume 7:Issue 1(2020)
Page Start:
83
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Short-term safety of mTOR inhibitors in infants and very young children with tuberous sclerosis complex (TSC): Multicentre clinical experience. (November 2018)

Authors:
Krueger, Darcy A.; Capal, Jamie K.; Curatolo, Paolo; Devinsky, Orrin; Ess, Kevin; Tzadok, Michal; Koenig, Mary K.; Narayanan, Vinodh; Ramos, Federico; Jozwiak, Sergiusz; de Vries, Petrus; Jansen, Anna C.; Wong, Michael; Mowat, David; Lawson, John; Bruns, Stephanie; Franz, David Neal
Journal:
European journal of paediatric neurology
Issue:
Volume 22:Number 6(2018:Nov.)
Page Start:
1066
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗