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Author/Creator Cheng, Hanyin

2. Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity. Issue 2 (25th November 2019)

Authors:
Cheng, Hanyin; Capponi, Simona; Wakeling, Emma; Marchi, Elaine; Li, Quan; Zhao, Mengge; Weng, Chunhua; Stefan, Piatek G.; Ahlfors, Helena; Kleyner, Robert; Rope, Alan; Lumaka, Aimé; Lukusa, Prosper; Devriendt, Koenraad; Vermeesch, Joris; Posey, Jennifer E.; Palmer, Elizabeth E.; Murray, Lucinda; ...
Other Names:
investigator.
Journal:
Human mutation
Issue:
Volume 41:Issue 2(2020)
Page Start:
449
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity. Issue 2 (25th November 2019)

Authors:
Cheng, Hanyin; Capponi, Simona; Wakeling, Emma; Marchi, Elaine; Li, Quan; Zhao, Mengge; Weng, Chunhua; Piatek, Stefan G.; Ahlfors, Helena; Kleyner, Robert; Rope, Alan; Lumaka, Aimé; Lukusa, Prosper; Devriendt, Koenraad; Vermeesch, Joris; Posey, Jennifer E.; Palmer, Elizabeth E.; Murray, Lucinda; ...
Other Names:
investigator.
Journal:
Human mutation
Issue:
Volume 41:Issue 2(2020)
Page Start:
449
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15. (1st May 2019)

Authors:
Cheng, Hanyin; Gottlieb, Leah; Marchi, Elaine; Kleyner, Robert; Bhardwaj, Puja; Rope, Alan F; Rosenheck, Sarah; Moutton, Sébastien; Philippe, Christophe; Eyaid, Wafaa; Alkuraya, Fowzan S; Toribio, Janet; Mena, Rafael; Prada, Carlos E; Stessman, Holly; Bernier, Raphael; Wermuth, Marieke; Kauffmann...
Journal:
Human molecular genetics
Issue:
Volume 28:Number 17(2019)
Page Start:
2900
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15. (6th February 2020)

Authors:
Cheng, Hanyin; Gottlieb, Leah; Marchi, Elaine; Kleyner, Robert; Bhardwaj, Puja; Rope, Alan F; Rosenheck, Sarah; Moutton, Sébastien; Philippe, Christophe; Eyaid, Wafaa; Alkuraya, Fowzan S; Toribio, Janet; Mena, Rafael; Prada, Carlos E; Stessman, Holly; Bernier, Raphael; Wermuth, Marieke; Kauffmann...
Journal:
Human molecular genetics
Issue:
Volume 29:Number 5(2020)
Page Start:
877
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗