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Author/Creator Cristian, Ingrid

2. Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies. Issue 5 (31st January 2021)

Authors:
Glinton, Kevin E.; Hurst, Anna C. E.; Bowling, Kevin M.; Cristian, Ingrid; Haynes, Devon; Adstamongkonkul, Dusit; Schnappauf, Oskar; Beck, David B.; Brewer, Carole; Parikh, Aditi Shah; Shinde, Deepali N.; Donaldson, Alan; Brautbar, Ariel; Koene, Saskia; van Haeringen, Arie; Piton, Amélie; Capri, ...
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 5(2021)
Page Start:
1366
Record Type:
Journal Article
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4. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. Issue 6 (20th March 2015)

Authors:
Yamamoto, Guilherme Lopes; Aguena, Meire; Gos, Monika; Hung, Christina; Pilch, Jacek; Fahiminiya, Somayyeh; Abramowicz, Anna; Cristian, Ingrid; Buscarilli, Michelle; Naslavsky, Michel Satya; Malaquias, Alexsandra C; Zatz, Mayana; Bodamer, Olaf; Majewski, Jacek; Jorge, Alexander A L; Pereira, Alex...
Journal:
Journal of medical genetics
Issue:
Volume 52:Issue 6(2015)
Page Start:
413
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

5. Variable developmental delays and characteristic facial features—A novel 7p22.3p22.2 microdeletion syndrome?. Issue 6 (25th April 2017)

Authors:
Yu, Andrea C.; Zambrano, Regina M.; Cristian, Ingrid; Price, Sue; Bernhard, Birgitta; Zucker, Marc; Venkateswaran, Sunita; McGowan‐Jordan, Jean; Armour, Christine M.
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 6(2017)
Page Start:
1593
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗