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Author/Creator Jakkula, Eveliina

1. Clinical delineation and natural history of the PIK3CA‐related overgrowth spectrum. Issue 7 (29th April 2014)

Authors:
Keppler‐Noreuil, Kim M.; Sapp, Julie C.; Lindhurst, Marjorie J.; Parker, Victoria E.R.; Blumhorst, Cathy; Darling, Thomas; Tosi, Laura L.; Huson, Susan M.; Whitehouse, Richard W.; Jakkula, Eveliina; Grant, Ian; Balasubramanian, Meena; Chandler, Kate E.; Fraser, Jamie L.; Gucev, Zoran; Crow, Yanic...
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 7(2014.)
Page Start:
1713
Record Type:
Journal Article
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2. Multi‐exon COL5A1 deletion in a child with classical Ehlers–Danlos syndrome: A case report expanding the allelic spectrum and showing evidence of parental gonosomal mosaicism. Issue 10 (11th October 2022)

Authors:
Strang‐Karlsson, Sonja; Keigwin, Sylvia; Anttonen, Anna‐Kaisa; Baker, Duncan; Bean, Kerry; Jakkula, Eveliina
Journal:
Clinical case reports
Issue:
Volume 10:Issue 10(2022)
Page Start:
n/a
Record Type:
Journal Article
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3. Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene. Issue 6 (12th June 2012)

Authors:
Kousi, Maria; Anttila, Verneri; Schulz, Angela; Calafato, Stella; Jakkula, Eveliina; Riesch, Erik; Myllykangas, Liisa; Kalimo, Hannu; Topçu, Meral; Gökben, Sarenur; Alehan, Fusun; Lemke, Johannes R; Alber, Michael; Palotie, Aarno; Kopra, Outi; Lehesjoki, Anna-Elina
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 6(2012)
Page Start:
391
Record Type:
Journal Article
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4. Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome. Issue 11 (9th September 2020)

Authors:
Hakonen, Anna H.; Lehtonen, Johanna; Kivirikko, Sirpa; Keski‐Filppula, Riikka; Moilanen, Jukka; Kivisaari, Reetta; Almusa, Henrikki; Jakkula, Eveliina; Saarela, Janna; Avela, Kristiina; Aittomäki, Kristiina
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 11(2020)
Page Start:
2605
Record Type:
Journal Article
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5. SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy. Issue 7 (6th May 2019)

Authors:
Hakonen, Anna H.; Polvi, Anne; Saloranta, Carola; Paetau, Anders; Heikkilä, Päivi; Almusa, Henrikki; Ellonen, Pekka; Jakkula, Eveliina; Saarela, Janna; Aittomäki, Kristiina
Journal:
American journal of medical genetics
Issue:
Volume 179:Issue 7(2019)
Page Start:
1362
Record Type:
Journal Article
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