(Q33571762)

28 July 2017

Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene (English)

1 reference

poikiloderma with neutropenia

28 July 2017

1 reference

9

1 reference

28 July 2017

Andrea Calabria

6

0 references

Elisa A Colombo

object named as

Elisa Adele Colombo

3

0 references

Rolph Pfundt

10

object named as

Rolph Pfundt

1 reference

28 July 2017

Ludovica Volpi

1

1 reference

28 July 2017

Gaia Roversi

2

1 reference

28 July 2017

Nico Leijsten

4

1 reference

28 July 2017

Daniela Concolino

5

1 reference

28 July 2017

Maria Antonietta Mencarelli

7

1 reference

28 July 2017

Michele Fimiani

8

1 reference

28 July 2017

Eric F P M Schoenmakers

11

1 reference

28 July 2017

Lidia Larizza

12

1 reference

28 July 2017

language of work or name

English

0 references

publication date

10 December 2009

1 reference

American Journal of Human Genetics

28 July 2017

1 reference

28 July 2017

86

1 reference

28 July 2017

72-76

1 reference

28 July 2017

1

1 reference

IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23.

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801743

Mapping short DNA sequencing reads and calling variants using mapping quality scores

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801743

Online system for faster multipoint linkage analysis via parallel execution on thousands of personal computers

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801743

Towards a proteome-scale map of the human protein–protein interaction network

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801743

Functional proteomics mapping of a human signaling pathway

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801743

Absence of RECQL4 mutations in poikiloderma with neutropenia in Navajo and non-Navajo patients.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801743

Exact genetic linkage computations for general pedigrees.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801743

Rothmund-Thomson syndrome (Thomson-type) and myelodysplasia.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801743

Clericuzio type poikiloderma with neutropenia is distinct from Rothmund-Thomson syndrome

31 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20004881

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20004881

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Optimization of genome search strategies for homozygosity mapping: influence of marker spacing on power and threshold criteria for identification of candidate regions

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20004881

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2009.11.014

1 reference

28 July 2017

1 reference

28 July 2017

1 reference