Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland

to related objects

Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 2041-1723

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland ; volume:10 ; number:1 ; day:24 ; month:1 ; year:2019 ; pages:1-15 ; date:12.2019
Nature Communications ; 10, Heft 1 (24.1.2019), 1-15, 12.2019

Creator: Kurki, Mitja I.
Saarentaus, Elmo
Pietiläinen, Olli
Gormley, Padhraig
Lal, Dennis
Kerminen, Sini
Torniainen-Holm, Minna
Hämäläinen, Eija
Rahikkala, Elisa
Keski-Filppula, Riikka
Rauhala, Merja
Korpi-Heikkilä, Satu
Komulainen–Ebrahim, Jonna
Helander, Heli
Vieira, Päivi
Männikkö, Minna
Peltonen, Markku
Havulinna, Aki S.
Salomaa, Veikko
Pirinen, Matti
Suvisaari, Jaana
Moilanen, Jukka S.
Körkkö, Jarmo
Kuismin, Outi
Daly, Mark J.
Palotie, Aarno

Contributor: SpringerLink (Online service)

DOI: 10.1038/s41467-018-08262-y

URN: urn:nbn:de:101:1-2019022022321310947794

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:58 AM CEST

Data provider

This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.

Show original at data provider

Associated

Kurki, Mitja I.
Saarentaus, Elmo
Pietiläinen, Olli
Gormley, Padhraig
Lal, Dennis
Kerminen, Sini
Torniainen-Holm, Minna
Hämäläinen, Eija
Rahikkala, Elisa
Keski-Filppula, Riikka
Rauhala, Merja
Korpi-Heikkilä, Satu
Komulainen–Ebrahim, Jonna
Helander, Heli
Vieira, Päivi
Männikkö, Minna
Peltonen, Markku
Havulinna, Aki S.
Salomaa, Veikko
Pirinen, Matti
Suvisaari, Jaana
Moilanen, Jukka S.
Körkkö, Jarmo
Kuismin, Outi
Daly, Mark J.
Palotie, Aarno
SpringerLink (Online service)

Other Objects (12)

Biallelic variants in KIF14 cause intellectual disability with microcephaly

Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland

Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families

Autosomal dominant intellectual disability

Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani families

Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

The first case of intellectual disability caused by novel compound heterozygosity for NUDT2 variants

Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly

Genetics of autosomal recessive intellectual disability

Intellectual disability and nutrition‐related health

Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes

Biallelic variants in KIF14 cause intellectual disability with microcephaly

Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland

Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families

Autosomal dominant intellectual disability

Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani families

Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

The first case of intellectual disability caused by novel compound heterozygosity for NUDT2 variants

Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly

Genetics of autosomal recessive intellectual disability

Intellectual disability and nutrition‐related health

Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes

Biallelic variants in KIF14 cause intellectual disability with microcephaly

Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland

Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families

Autosomal dominant intellectual disability

Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani families

Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

The first case of intellectual disability caused by novel compound heterozygosity for NUDT2 variants

Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly

Genetics of autosomal recessive intellectual disability

Intellectual disability and nutrition‐related health

Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes

Cultural heritage institutions wishing to register will find more information here.

Fields marked * need to be filled in.

Username*

Please enter your username

Email*

Please enter your email address

Please do not fill this field

First name

Last name

Password*

Please enter your password

Confirm password*

Please enter the same password

I have read and agree to the privacy policy for the collection of personal data.*

This field is required.

I would like to subscribe to the newsletter of the Deutsche Digitale Bibliothek. See newsletter subscription info.

Account created

Your "My DDB" account has been successfully created. Before you can log in to your account, you must click the confirmation link in the message we just sent to the email address you provided.

Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland

Show object

References and Relationships

Contributors, Places and Time

Further information

Data provider

Associated

Other Objects (12)

Biallelic variants in KIF14 cause intellectual disability with microcephaly

Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland

Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families

Autosomal dominant intellectual disability

Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani families

Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

The first case of intellectual disability caused by novel compound heterozygosity for NUDT2 variants

Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly

Genetics of autosomal recessive intellectual disability

Intellectual disability and nutrition‐related health

Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes

Biallelic variants in KIF14 cause intellectual disability with microcephaly

Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland

Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families

Autosomal dominant intellectual disability

Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani families

Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

The first case of intellectual disability caused by novel compound heterozygosity for NUDT2 variants

Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly

Genetics of autosomal recessive intellectual disability

Intellectual disability and nutrition‐related health

Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes

Biallelic variants in KIF14 cause intellectual disability with microcephaly

Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland

Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families

Autosomal dominant intellectual disability

Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani families

Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

The first case of intellectual disability caused by novel compound heterozygosity for NUDT2 variants

Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly

Genetics of autosomal recessive intellectual disability

Intellectual disability and nutrition‐related health

Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes

Related objects

Reset password