(Q38553435)

4 September 2017

Multiplex ligation-depending probe amplification is not suitable for detection of low-grade mosaicism (English)

1 reference

4 September 2017

Monique M van Veghel-Plandsoen

1

1 reference

4 September 2017

Cokkie H Wouters

2

1 reference

4 September 2017

Joan N R Kromosoeto

3

1 reference

4 September 2017

Mariska C den Ridder-Klünnen

4

1 reference

4 September 2017

Dicky J J Halley

5

1 reference

4 September 2017

Ans M W van den Ouweland

6

1 reference

4 September 2017

13 April 2011

1 reference

European Journal of Human Genetics

4 September 2017

1 reference

4 September 2017

19

1 reference

4 September 2017

9

1 reference

4 September 2017

1009-1012

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2011.60

4 September 2017

0 references

cites work

Guidelines for the diagnosis and management of individuals with neurofibromatosis 1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179360

High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179360

High rate of mosaicism in tuberous sclerosis complex

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179360

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179360

Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179360

Large deletion at the TSC1 locus in a family with tuberous sclerosis complex.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179360

Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations

31 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2011.60

Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21487440

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21487440

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2011.60

1 reference

Dimensions Publication ID

4 September 2017

0 references

1 reference

4 September 2017

PubMed publication ID

21487440

1 reference