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Author/Creator Robert, Leema

1. 196 Paediatric Cardiomyopathy (PC); The Validation, Implementation and Utility of a 71 Gene NGS Diagnostic Panel to Detect Variants in Rare Cardiac Genes. (6th June 2015)

Authors:
Gable, Mary; Honeychurch, Julie; Sawyer, Hilary; Newbury-Ecob, Ruth; Steward, Colin; Robert, Leema; Bueser, Tootie; Gardiner, Carol; Bowen, Claire; Williams, Maggie
Journal:
Heart
Issue:
Volume 101(2015)Supplement 4
Page Start:
A109
Record Type:
Journal Article
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2. Diagnosis, natural history, and management in vascular Ehlers–Danlos syndrome. Issue 1 (March 2017)

Authors:
Byers, Peter H.; Belmont, John; Black, James; De Backer, Julie; Frank, Michael; Jeunemaitre, Xavier; Johnson, Diana; Pepin, Melanie; Robert, Leema; Sanders, Lynn; Wheeldon, Nigel
Other Names:
Tinkle Brad T. guestEditor.; Malfait Fransiska guestEditor.; Francomano Clair A. guestEditor.; Byers Peter H. guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 175:Issue 1(2017)
Page Start:
40
Record Type:
Journal Article
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3. Features of Marfan syndrome not listed in the Ghent nosology – the dark side of the disease. (2nd December 2019)

Authors:
von Kodolitsch, Yskert; Demolder, Anthony; Girdauskas, Evaldas; Kaemmerer, Harald; Kornhuber, Katharina; Muino Mosquera, Laura; Morris, Shaine; Neptune, Enid; Pyeritz, Reed; Rand-Hendriksen, Svend; Rahman, Alexander; Riise, Nina; Robert, Leema; Staufenbiel, Ingmar; Szöcs, Katalin; Vanem, Thy Thy;...
Journal:
Expert review of cardiovascular therapy
Issue:
Volume 17:Number 12(2019)
Page Start:
883
Record Type:
Journal Article
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4. Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability. Issue 1 (11th October 2017)

Authors:
Hamilton, Mark J; Caswell, Richard C; Canham, Natalie; Cole, Trevor; Firth, Helen V; Foulds, Nicola; Heimdal, Ketil; Hobson, Emma; Houge, Gunnar; Joss, Shelagh; Kumar, Dhavendra; Lampe, Anne Katrin; Maystadt, Isabelle; McKay, Victoria; Metcalfe, Kay; Newbury-Ecob, Ruth; Park, Soo-Mi; Robert, Leem...
Journal:
Journal of medical genetics
Issue:
Volume 55:Issue 1(2018)
Page Start:
28
Record Type:
Journal Article
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5. The 2017 international classification of the Ehlers–Danlos syndromes. Issue 1 (March 2017)

Authors:
Malfait, Fransiska; Francomano, Clair; Byers, Peter; Belmont, John; Berglund, Britta; Black, James; Bloom, Lara; Bowen, Jessica M.; Brady, Angela F.; Burrows, Nigel P.; Castori, Marco; Cohen, Helen; Colombi, Marina; Demirdas, Serwet; De Backer, Julie; De Paepe, Anne; Fournel‐Gigleux, Sylvie; Fran...
Other Names:
Tinkle Brad T. guestEditor.; Malfait Fransiska guestEditor.; Francomano Clair A. guestEditor.; Byers Peter H. guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 175:Issue 1(2017)
Page Start:
8
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗