(Q92637637)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30914828%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

title

Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population (English)

1 reference

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30 April 2020

1 reference

1

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30 April 2020

Elisa Rahikkala

2

1 reference

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30 April 2020

Teppo Varilo

5

1 reference

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30 April 2020

Marc Abramowicz

15

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30 April 2020

Irma Järvelä

19

1 reference

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30 April 2020

14

Isabelle Pirson

1 reference

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30 April 2020

author name string

Michaela K Bode

3

1 reference

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30 April 2020

Tuomo Määttä

4

1 reference

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30 April 2020

Thyrza Loman

6

1 reference

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30 April 2020

Anju K Philips

7

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30 April 2020

Mitja Kurki

8

1 reference

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30 April 2020

Aarno Palotie

9

1 reference

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30 April 2020

Jarmo Körkkö

10

1 reference

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30 April 2020

Päivi Vieira

11

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30 April 2020

Kristiina Avela

12

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30 April 2020

Valérie Jacquemin

13

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30 April 2020

Arjan P M de Brouwer

16

1 reference

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30 April 2020

Outi Kuismin

17

1 reference

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30 April 2020

Hans van Bokhoven

18

1 reference

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30 April 2020

publication date

26 March 2019

1 reference

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European Journal of Human Genetics

30 April 2020

published in

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30 April 2020

volume

27

1 reference

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30 April 2020

issue

8

1 reference

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30 April 2020

page(s)

1235-1243

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Genetic and epigenetic networks in intellectual disabilities.

30 April 2020

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Making headway with genetic diagnostics of intellectual disabilities

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7 January 2021

Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.

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7 January 2021

Genetics of early onset cognitive impairment

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A developmental and genetic classification for malformations of cortical development: update 2012

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7 January 2021

Malformations of cortical development: clinical features and genetic causes

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7 January 2021

Genetic malformations of cortical development

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Lissencephaly: Expanded imaging and clinical classification.

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Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats

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7 January 2021

Genetic Basis of Brain Malformations

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7 January 2021

The genetics of lissencephaly

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7 January 2021

Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant

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7 January 2021

Homozygous null variant in CRADD, encoding an adaptor protein that mediates apoptosis, is associated with lissencephaly.

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7 January 2021

Genetic mapping and exome sequencing identify variants associated with five novel diseases

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7 January 2021

Frontotemporal pachygyria-two new patients.

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7 January 2021

New Finnish reference for head circumference from birth to 7 years

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7 January 2021

New Finnish growth references for children and adolescents aged 0 to 20 years: Length/height-for-age, weight-for-length/height, and body mass index-for-age

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7 January 2021

Analysis of protein-coding genetic variation in 60,706 humans

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7 January 2021

Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in Finland

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7 January 2021

Tracing an ancestral mutation: genealogical and haplotype analysis of the infantile onset spinocerebellar ataxia locus

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7 January 2021

RAIDD is a new 'death' adaptor molecule

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7 January 2021

Pidd, a new death-domain-containing protein, is induced by p53 and promotes apoptosis

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7 January 2021

Apoptosis caused by p53-induced protein with death domain (PIDD) depends on the death adapter protein RAIDD.

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7 January 2021

Neuronal caspase 2 activity and function requires RAIDD, but not PIDD

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7 January 2021

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7 January 2021

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7 January 2021

The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8

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7 January 2021

"Salla disease": a new lysosomal storage disorder

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7 January 2021

Salla disease: a new lysosomal storage disorder with disturbed sialic acid metabolism

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7 January 2021

Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia

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7 January 2021

Use of population isolates for mapping complex traits

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7 January 2021

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7 January 2021

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7 January 2021

Genetics and mechanisms leading to human cortical malformations

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7 January 2021

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Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30914828%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

1 reference