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Author/Creator Metcalfe, Kay

1. Autism, language and communication in children with sex chromosome trisomies. Issue 10 (23rd July 2010)

Authors:
Bishop, Dorothy V M; Jacobs, Patricia A; Lachlan, Katherine; Wellesley, Diana; Barnicoat, Angela; Boyd, Patricia A; Fryer, Alan; Middlemiss, Prisca; Smithson, Sarah; Metcalfe, Kay; Shears, Deborah; Leggett, Victoria; Nation, Kate; Scerif, Gaia
Journal:
Archives of disease in childhood
Issue:
Volume 96:Issue 10(2011)
Page Start:
954
Record Type:
Journal Article
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3. Clinical and genetic aspects of KBG syndrome. Issue 11 (26th September 2016)

Authors:
Low, Karen; Ashraf, Tazeen; Canham, Natalie; Clayton‐Smith, Jill; Deshpande, Charu; Donaldson, Alan; Fisher, Richard; Flinter, Frances; Foulds, Nicola; Fryer, Alan; Gibson, Kate; Hayes, Ian; Hills, Alison; Holder, Susan; Irving, Melita; Joss, Shelagh; Kivuva, Emma; Lachlan, Kathryn; Magee, Alex; ...
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 11(2016)
Page Start:
2835
Record Type:
Journal Article
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5. 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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7. Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome. Issue 7 (3rd April 2014)

Authors:
Disciglio, Vittoria; Rizzo, Caterina Lo; Mencarelli, Maria Antonietta; Mucciolo, Mafalda; Marozza, Annabella; Di Marco, Chiara; Massarelli, Antonio; Canocchi, Valentina; Baldassarri, Margherita; Ndoni, Enea; Frullanti, Elisa; Amabile, Sonia; Anderlid, Britt Marie; Metcalfe, Kay; Le Caignec, Cédri...
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 7(2014.)
Page Start:
1666
Record Type:
Journal Article
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8. The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients. Issue 4 (13th November 2019)

Authors:
Ostrowski, Philip J.; Zachariou, Anna; Loveday, Chey; Beleza‐Meireles, Ana; Bertoli, Marta; Dean, John; Douglas, Andrew G. L.; Ellis, Ian; Foster, Alison; Graham, John M.; Hague, Jennifer; Hilhorst‐Hofstee, Yvonne; Hoffer, Mariette; Johnson, Diana; Josifova, Dragana; Kant, Sarina G.; Kini, Usha; ...
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:
557
Record Type:
Journal Article
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