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Author/Creator Bhoj, Elizabeth J.

22. Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome. (25th June 2015)

Authors:
Bhoj, Elizabeth J.; Li, Dong; Harr, Margaret H.; Tian, Lifeng; Wang, Tiancheng; Zhao, Yan; Qiu, Haijun; Kim, Cecilia; Hoffman, Jodi D.; Hakonarson, Hakon; Zackai, Elaine H.
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 11(2015:Nov.)
Page Start:
2497
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

23. Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community. Issue 4 (4th December 2020)

Authors:
Sobering, Andrew K.; Li, Dong; Beighley, Jennifer S.; Carey, John C.; Donald, Tyhiesia; Elsea, Sarah H.; Figueroa, Karla P.; Gerdts, Jennifer; Hamlet, Andre; Mirzaa, Ghayda M.; Nelson, Beverly; Pulst, Stefan M.; Smith, Janice L.; Tassone, Flora; Toriello, Helga V.; Walker, Ruth H.; Yearwood, Kath...
Other Names:
Prada Carlos E guestEditor.; Schwartz Ida guestEditor.; Cavalcanti Denise guestEditor.; Zarate Yuri A guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 184:Issue 4(2020)
Page Start:
1030
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

24. Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma. Issue 12 (18th November 2018)

Authors:
Blackburn, Patrick R.; Chacon‐Camacho, Oscar F.; Ortiz‐González, Xilma R.; Reyes, Mariana; Lopez‐Uriarte, Graciela A.; Zarei, Shabnam; Bhoj, Elizabeth J.; Perez‐Solorzano, Sofia; Vaubel, Rachael A.; Murphree, Marine I.; Nava, Jessica; Cortes‐Gonzalez, Vianney; Parisi, Joseph E.; Villanueva‐Mendoz...
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 12(2018)
Page Start:
2710
Record Type:
Journal Article
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26. Genomic sequencing in a cohort of individuals with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome. Issue 4 (6th January 2023)

Authors:
Matalon, Dena R.; Bhoj, Elizabeth J.; Li, Dong; McDougall, Carey; Schindewolf, Erica; Khalek, Nahla; Wilkens, Alisha; McManus, Morgan; Deardorff, Matthew A.; Zackai, Elaine H.
Journal:
American journal of medical genetics
Issue:
Volume 191:Issue 4(2023)
Page Start:
977
Record Type:
Journal Article
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27. Inherited bone marrow failure with macrothrombocytopenia due to germline tubulin beta class I (TUBB) variant. (7th October 2022)

Authors:
Shah, Yash B.; Lin, Ping; Chen, Stone; Zheng, Alan; Alcaraz, Wendy; Towne, Meghan C.; Gabriel, Courtney; Bhoj, Elizabeth J.; Lambert, Michele P.; Olson, Timothy S.; Frank, Dale M.; Ellis, Colin A.; Babushok, Daria V.
Journal:
British journal of haematology
Issue:
Volume 200:Number 2(2023)
Page Start:
222
Record Type:
Journal Article
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28. Muenke syndrome: Medical and surgical comorbidities and long‐term management. Issue 8 (20th May 2019)

Authors:
Murali, Chaya N.; McDonald‐McGinn, Donna M.; Wenger, Tara Lynn; McDougall, Carey; Stroup, Bridget M.; Sheppard, Sarah E.; Taylor, Jesse; Bartlett, Scott P.; Bhoj, Elizabeth J.; Zackai, Elaine H.; Santani, Avni
Journal:
American journal of medical genetics
Issue:
Volume 179:Issue 8(2019)
Page Start:
1442
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗