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Author/Creator Assia Batzir, Nurit

2. 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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Available online (eLD content is only available in our Reading Rooms) ↗

3. 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) ↗