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Author/Creator Mizerik, Elizabeth

1. A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay. Issue 1 (12th September 2021)

Authors:
Odom, John; Amin, Hitha; Gijavanekar, Charul; Elsea, Sarah H.; Kralik, Stephen; Chinen, Javier; Lin, Yuezhen; Yates, Amber Meshell Mayfield; Mizerik, Elizabeth; Potocki, Lorraine; Scaglia, Fernando
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 1(2022)
Page Start:
259
Record Type:
Journal Article
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2. Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short‐chain enoyl‐CoA hydratase deficiency. Issue 5 (7th March 2019)

Authors:
Shayota, Brian J.; Soler‐Alfonso, Claudia; Bekheirnia, Mir Reza; Mizerik, Elizabeth; Boyer, Suzy W.; Xiao, Rui; Yang, Yaping; Elsea, Sarah H.; Scaglia, Fernando
Journal:
American journal of medical genetics
Issue:
Volume 179:Issue 5(2019)
Page Start:
803
Record Type:
Journal Article
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4. GARS‐related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment. Issue 5 (17th March 2020)

Authors:
Markovitz, Rebecca; Ghosh, Rajarshi; Kuo, Molly E.; Hong, William; Lim, Jaehyung; Bernes, Saunder; Manberg, Stephanie; Crosby, Kathleen; Tanpaiboon, Pranoot; Bharucha‐Goebel, Diana; Bonnemann, Carsten; Mohila, Carrie A.; Mizerik, Elizabeth; Woodbury, Suzanne; Bi, Weimin; Lotze, Timothy; Antonelli...
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 5(2020)
Page Start:
1167
Record Type:
Journal Article
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5. Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension. Issue 4 (22nd January 2020)

Authors:
Birjiniuk, Alona; Glinton, Kevin E.; Villafranco, Natalie; Boyer, Suzanne; Laufman, Jason; Mizerik, Elizabeth; Scott, Daryl; Elsea, Sarah H.; Galambos, Csaba; Varghese, Nidhy P.; Scaglia, Fernando
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 4(2020)
Page Start:
755
Record Type:
Journal Article
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6. Phenotypic expansion of POGZ‐related intellectual disability syndrome (White‐Sutton syndrome). Issue 1 (29th November 2019)

Authors:
Assia Batzir, Nurit; Posey, Jennifer E.; Song, Xiaofei; Akdemir, Zeynep Coban; Rosenfeld, Jill A.; Brown, Chester W.; Chen, Emily; Holtrop, Shannon G.; Mizerik, Elizabeth; Nieto Moreno, Margarita; Payne, Katelyn; Raas‐Rothschild, Annick; Scott, Richard; Vernon, Hilary J.; Zadeh, Neda; Lupski, Jam...
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 1(2020)
Page Start:
38
Record Type:
Journal Article
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7. Review of the phenotypic spectrum associated with haploinsufficiency of MYRF. Issue 7 (8th May 2019)

Authors:
Rossetti, Linda Z.; Glinton, Kevin; Yuan, Bo; Liu, Pengfei; Pillai, Nishitha; Mizerik, Elizabeth; Magoulas, Pilar; Rosenfeld, Jill A.; Karaviti, Lefkothea; Sutton, Vernon R.; Lalani, Seema R.; Scott, Daryl A.
Journal:
American journal of medical genetics
Issue:
Volume 179:Issue 7(2019)
Page Start:
1376
Record Type:
Journal Article
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8. Sudden infant death with dysgenesis of the testes syndrome in a non‐Amish infant: A case report. Issue 11 (4th September 2020)

Authors:
Slater, Brady; Glinton, Kevin; Dai, Hongzheng; Lay, Erica; Karaviti, Lefkothea; Mizerik, Elizabeth; Murali, Chaya N.; Lalani, Seema R.; Bacino, Carlos A.; Rossetti, Linda Z.
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 11(2020)
Page Start:
2751
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗