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Author/Creator Toriello, Helga V.

1. A novel SYNJ1 homozygous variant causing developmental and epileptic encephalopathy in an Afro‐Caribbean individual. Issue 1 (23rd September 2022)

Authors:
Maj, Mary; Taylor, Christie L.; Landau, Kevin; Toriello, Helga V.; Li, Dong; Bhoj, Elizabeth J.; Hakonarson, Hakon; Nelson, Beverly; Gluschitz, Sarah; Walker, Ruth H.; Sobering, Andrew K.
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 11:Issue 1(2023)
Page Start:
n/a
Record Type:
Journal Article
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3. 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
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5. Maternal vitamin K deficient embryopathy: Association with hyperemesis gravidarum and Crohn disease12. Issue 3 (12th February 2013)

Authors:
Toriello, Helga V.; Erick, Miriam; Alessandri, Jean‐Luc; Bailey, Diana; Brunetti‐Pierri, Nicola; Cox, Helen; Fryer, Alan; Marty, Denise; McCurdy, Charles; Mulliken, John B.; Murphy, Helen; Omlor, Joseph; Pauli, Richard M.; Ranells, Judith D.; Sanchez‐Valle, Amarillis; Tobiasz, Ana; Van Maldergem,...
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 3(2013:Mar.)
Page Start:
417
Record Type:
Journal Article
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7. Oculoectodermal syndrome is a mosaic RASopathy associated with KRAS alterations. (21st March 2015)

Authors:
Peacock, Jacqueline D.; Dykema, Karl J.; Toriello, Helga V.; Mooney, Marie R.; Scholten, Donald J.; Winn, Mary E.; Borgman, Andrew; Duesbery, Nicholas S.; Hiemenga, Judith A.; Liu, Cong; Campbell, Stacey; Nickoloff, Brian P.; Williams, Bart O.; Steensma, Matthew
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 7(2015:Jul.)
Page Start:
1429
Record Type:
Journal Article
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8. Teaching perspectives on the communication of difficult news of genetic conditions to medical students. Issue 1 (26th October 2022)

Authors:
Vanasse, Ashley M.; Weiler, Tracey; Roth, Elizabeth A.; Upadhya, Sharmila; Toriello, Helga V.; VanLeuven, Ariel J.; Norris, John R.; Carey, John C.; Sobering, Andrew K.
Journal:
American journal of medical genetics
Issue:
Volume 191:Issue 1(2023)
Page Start:
299
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗