X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes

Location
Deutsche Nationalbibliothek Frankfurt am Main
ISSN
1750-1172
Extent
Online-Ressource
Language
Englisch
Notes
online resource.

Bibliographic citation
X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes ; volume:9 ; number:1 ; day:11 ; month:4 ; year:2014 ; pages:1-13 ; date:12.2014
Orphanet journal of rare diseases ; 9, Heft 1 (11.4.2014), 1-13, 12.2014

Creator
Philips, Anju K.
Contributor
Sirén, Auli
Avela, Kristiina
Somer, Mirja
Peippo, Maarit
Ahvenainen, Minna
Doagu, Fatma
Arvio, Maria
Kääriäinen, Helena
Van Esch, Hilde
Froyen, Guy
Haas, Stefan A.
Hu, Hao
Kalscheuer, Vera M.
Järvelä, Irma
SpringerLink (Online service)

DOI
10.1186/1750-1172-9-49
URN
urn:nbn:de:1111-2016050125626
Rights
Der Zugriff auf das Objekt ist unbeschränkt möglich.
Last update
14.08.2025, 10:50 AM CEST

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Associated

  • Philips, Anju K.
  • Sirén, Auli
  • Avela, Kristiina
  • Somer, Mirja
  • Peippo, Maarit
  • Ahvenainen, Minna
  • Doagu, Fatma
  • Arvio, Maria
  • Kääriäinen, Helena
  • Van Esch, Hilde
  • Froyen, Guy
  • Haas, Stefan A.
  • Hu, Hao
  • Kalscheuer, Vera M.
  • Järvelä, Irma
  • SpringerLink (Online service)

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