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Author/Creator Karalis, Aspasia

1. Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis. (July 2018)

Authors:
Boissel, Sarah; Fallet-Bianco, Catherine; Chitayat, David; Kremer, Valérie; Nassif, Christina; Rypens, Françoise; Delrue, Marie-Ange; Dal Soglio, Dorothée; Oligny, Luc; Patey, Natalie; Flori, Elisabeth; Cloutier, Mireille; Dyment, David; Campeau, Philippe; Karalis, Aspasia; Nizard, Sonia; Fraser,...
Journal:
Genetics in medicine
Issue:
Volume 20:Number 7(2018)
Page Start:
745
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Prenatal presentation of glutaric aciduria type II: A case report with radiologic, clinical, biochemical, molecular, and pathological phenotyping. Issue 3 (12th January 2021)

Authors:
Carmant, Laurence; Karalis, Aspasia; Rypens, Françoise; Oligny, Luc; Wavrant, Sandrine; Lapeyraque, Anne‐Laure; Codsi, Elisabeth
Journal:
Clinical case reports
Issue:
Volume 9:Issue 3(2021)
Page Start:
1101
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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