(Q39825284)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18071751%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

title

A syndromic form of autosomal recessive congenital microcephaly (Jawad syndrome) maps to chromosome 18p11.22-q11.2. (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18071751%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

0 references

0 references

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18071751%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

author name string

Muhammad Jawad Hassan

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18071751%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Muhammad Salman Chishti

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18071751%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Muhammad Tariq

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18071751%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Wasim Ahmad

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18071751%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

publication date

11 December 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18071751%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18071751%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

volume

123

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18071751%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18071751%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

page(s)

77-82

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18071751%20AND%20SRC:MED&resulttype=core&format=json

Microcephalin: a causal link between impaired damage response signalling and microcephaly

29 December 2019

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00439-007-0452-X

Is the novel SCKL3 at 14q23 the predominant Seckel locus?

21 January 2018

1 reference

12 December 2020

Human EFO1p exhibits acetyltransferase activity and is a unique combination of linker histone and Ctf7p/Eco1p chromatid cohesion establishment domains

1 reference

12 December 2020

A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration

1 reference

12 December 2020

Proteomic analysis of the mammalian nuclear pore complex

1 reference

12 December 2020

A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome

1 reference

12 December 2020

A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly

1 reference

12 December 2020

Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics

1 reference

12 December 2020

Filippi syndrome: two cases with ectodermal features, expanding the phenotype

1 reference

12 December 2020

Computer programs for multilocus haplotyping of general pedigrees.

1 reference

12 December 2020

The Glutamine-rich Region of the HIV-1 Tat Protein Is Involved in T-cell Apoptosis

1 reference

12 December 2020

Unusual facial appearance, microcephaly, growth and mental retardation, and syndactyly. A new syndrome?

1 reference

12 December 2020

Autozygosity mapping of a seckel syndrome locus to chromosome 3q22. 1-q24.

1 reference

12 December 2020

Faster sequential genetic linkage computations

1 reference

12 December 2020

A new locus for Seckel syndrome on chromosome 18p11.31-q11.2.

1 reference

12 December 2020

Isolation and mapping of human T-cell protein tyrosine phosphatase sequences: localization of genes and pseudogenes discriminated using fluorescence hybridization with genomic versus cDNA probes

1 reference

12 December 2020

Two human orthologues of Eco1/Ctf7 acetyltransferases are both required for proper sister-chromatid cohesion

1 reference

12 December 2020

Proteomic characterization of the human centrosome by protein correlation profiling

1 reference

12 December 2020

1 reference

12 December 2020

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

1 reference

12 December 2020

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

1 reference

12 December 2020

Primer3 on the WWW for general users and for biologist programmers

1 reference

12 December 2020

Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings

1 reference

12 December 2020

Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: Novel sequence variants in ASPM gene.

1 reference

12 December 2020

A combined linkage-physical map of the human genome

1 reference

12 December 2020

Three sibs with phalangeal anomalies, microcephaly, severe mental retardation, and neurological abnormalities

1 reference

12 December 2020

Initial sequencing and analysis of the human genome

1 reference

12 December 2020

10.1007/S00439-007-0452-X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18071751%20AND%20SRC:MED&resulttype=core&format=json

release_k2db4457pzhrtkngk3ubsjc3ku

29 December 2019

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/k2db4457pzhrtkngk3ubsjc3ku

24 November 2022

mapped directly with Wikidata item

1 reference