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Author/Creator Nezarati, Marjan M.

1. An Additional Individual with a De Novo Variant in Myelin Regulatory Factor (MYRF) with Cardiac and Urogenital Anomalies: Further Proof of Causality: Comments on the article by Pinz et al. (). Issue 9 (2nd August 2018)

Authors:
Chitayat, David; Shannon, Patrick; Uster, Tami; Nezarati, Marjan M.; Schnur, Rhonda E.; Bhoj, Elizabeth J.
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 9(2018)
Page Start:
2041
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. An Additional Individual with a De Novo Variant in Myelin Regulatory Factor (MYRF) with Cardiac and Urogenital Anomalies: Further Proof of Causality: Comments on the article by Pinz et al. (2018). Issue 9 (2nd August 2018)

Authors:
Chitayat, David; Shannon, Patrick; Uster, Tami; Nezarati, Marjan M.; Schnur, Rhonda E.; Bhoj, Elizabeth J.
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 9(2018)
Page Start:
2041
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Dyssegmental dysplasia, Silverman‐Handmaker type: prenatal ultrasound findings and molecular analysis. (4th August 2013)

Authors:
Ladhani, Noor Niyar N.; Chitayat, David; Nezarati, Marjan M.; Laureane, Mittaz Crettol; Keating, Sarah; Silver, Rachel J.; Unger, Sheila; Velsher, Lea; Sirkin, Wilma; Toi, Ants; Glanc, Phyllis
Journal:
Prenatal diagnosis
Issue:
Volume 33:Number 11(2013:Nov.)
Page Start:
1039
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. MEIS2 sequence variant in a child with intellectual disability and cardiac defects: Expansion of the phenotypic spectrum and documentation of low‐level mosaicism in an unaffected parent. Issue 1 (22nd October 2020)

Authors:
Su, Julia X.; Velsher, Lea S.; Juusola, Jane; Nezarati, Marjan M.
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 1(2021)
Page Start:
300
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. Issue 3 (19th December 2019)

Authors:
Assia Batzir, Nurit; Kishor Bhagwat, Pranjali; Larson, Austin; Coban Akdemir, Zeynep; Bagłaj, Maciej; Bofferding, Leon; Bosanko, Katherine B.; Bouassida, Skander; Callewaert, Bert; Cannon, Ashley; Enchautegui Colon, Yazmin; Garnica, Adolfo D.; Harr, Margaret H.; Heck, Sandra; Hurst, Anna C. E.; J...
Journal:
Human mutation
Issue:
Volume 41:Issue 3(2020)
Page Start:
641
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗