Search

Author/Creator Graham John guestEditor.

1. A dyadic genotype–phenotype approach to diagnostic criteria for Proteus syndrome. Issue 4 (6th November 2019)

Authors:
Sapp, Julie C.; Buser, Anna; Burton‐Akright, Jasmine; Keppler‐Noreuil, Kim M.; Biesecker, Leslie G.
Other Names:
Burkardt Deepika guestEditor.; Tatton‐Brown Kate guestEditor.; Dobyns William B. guestEditor.; Graham John guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 181:Issue 4(2019)
Page Start:
565
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Approach to overgrowth syndromes in the genome era. Issue 4 (2nd December 2019)

Authors:
Burkardt, Deepika D.; Tatton‐Brown, Katrina; Dobyns, William; Graham, John M.
Other Names:
Burkardt Deepika guestEditor.; Tatton‐Brown Kate guestEditor.; Dobyns William B. guestEditor.; Graham John guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 181:Issue 4(2019)
Page Start:
483
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry. Issue 4 (11th December 2019)

Authors:
Grange, Dorothy K.; Roessler, Helen I.; McClenaghan, Conor; Duran, Karen; Shields, Kathleen; Remedi, Maria S.; Knoers, Nine V. A. M.; Lee, Jin‐Moo; Kirk, Edwin P.; Scurr, Ingrid; Smithson, Sarah F.; Singh, Gautam K.; van Haelst, Mieke M.; Nichols, Colin G.; van Haaften, Gijs
Other Names:
Burkardt Deepika guestEditor.; Tatton‐Brown Kate guestEditor.; Dobyns William B. guestEditor.; Graham John guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 181:Issue 4(2019)
Page Start:
658
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Characterization of the Beckwith‐Wiedemann spectrum: Diagnosis and management. Issue 4 (30th August 2019)

Authors:
Duffy, Kelly A.; Cielo, Christopher M.; Cohen, Jennifer L.; Gonzalez‐Gandolfi, Christina X.; Griff, Jessica R.; Hathaway, Evan R.; Kupa, Jonida; Taylor, Jesse A.; Wang, Kathleen H.; Ganguly, Arupa; Deardorff, Matthew A.; Kalish, Jennifer M.
Other Names:
Burkardt Deepika guestEditor.; Tatton‐Brown Kate guestEditor.; Dobyns William B. guestEditor.; Graham John guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 181:Issue 4(2019)
Page Start:
693
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Congenital hyperinsulinism disorders: Genetic and clinical characteristics. Issue 4 (14th August 2019)

Authors:
Rosenfeld, Elizabeth; Ganguly, Arupa; De Leon, Diva D.
Other Names:
Burkardt Deepika guestEditor.; Tatton‐Brown Kate guestEditor.; Dobyns William B. guestEditor.; Graham John guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 181:Issue 4(2019)
Page Start:
682
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. EML1‐associated brain overgrowth syndrome with ribbon‐like heterotopia. Issue 4 (11th November 2019)

Authors:
Oegema, Renske; McGillivray, George; Leventer, Richard; Le Moing, Anne‐Gaëlle; Bahi‐Buisson, Nadia; Barnicoat, Angela; Mandelstam, Simone; Francis, David; Francis, Fiona; Mancini, Grazia M. S.; Savelberg, Sanne; van Haaften, Gijs; Mankad, Kshitij; Lequin, Maarten H.
Other Names:
Burkardt Deepika guestEditor.; Tatton‐Brown Kate guestEditor.; Dobyns William B. guestEditor.; Graham John guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 181:Issue 4(2019)
Page Start:
627
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

8. Epigenetic signatures in overgrowth syndromes: Translational opportunities. Issue 4 (16th October 2019)

Authors:
Cytrynbaum, Cheryl; Choufani, Sanaa; Weksberg, Rosanna
Other Names:
Burkardt Deepika guestEditor.; Tatton‐Brown Kate guestEditor.; Dobyns William B. guestEditor.; Graham John guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 181:Issue 4(2019)
Page Start:
491
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

9. Kosaki overgrowth syndrome: A newly identified entity caused by pathogenic variants in platelet‐derived growth factor receptor‐beta. Issue 4 (11th November 2019)

Authors:
Takenouchi, Toshiki; Okuno, Hironobu; Kosaki, Kenjiro
Other Names:
Burkardt Deepika guestEditor.; Tatton‐Brown Kate guestEditor.; Dobyns William B. guestEditor.; Graham John guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 181:Issue 4(2019)
Page Start:
650
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

10. Megalencephaly syndromes associated with mutations of core components of the PI3K‐AKT–MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR. Issue 4 (23rd August 2019)

Authors:
Dobyns, William B.; Mirzaa, Ghayda M.
Other Names:
Burkardt Deepika guestEditor.; Tatton‐Brown Kate guestEditor.; Dobyns William B. guestEditor.; Graham John guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 181:Issue 4(2019)
Page Start:
582
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

Limit your search