(Q43505829)

24 November 2017

Monozygotic twins with chromosome 22q11 deletion and discordant phenotype (English)

1 reference

24 November 2017

Hatchwell E

1

1 reference

PMCID

1051887

24 November 2017

language of work or name

English

0 references

publication date

1 March 1996

1 reference

Journal of Medical Genetics

24 November 2017

1 reference

24 November 2017

33

1 reference

24 November 2017

3

1 reference

24 November 2017

261

1 reference

Monozygotic twins with chromosome 22q11 deletion and discordant phenotype

24 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051887

Two-hit model for sporadic congenital anomalies in mice with the disorganization mutation

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051887

Velocardiofacial syndrome in a mother and daughter: variability of the clinical phenotype

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051887

Cerebellar atrophy in a patient with velocardiofacial syndrome

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051887

Upper limb malformations in DiGeorge syndrome

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051887

Chromosomal deletion and retinoblastoma

1 December 2018

1 reference

12 December 2020

Inflammatory linear verrucous epidermal nevus (ILVEN) in a mother and her daughter

1 reference

12 December 2020

Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2.

1 reference

12 December 2020

Velo-cardio-facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.33.3.261

1 reference

24 November 2017

1 reference

24 November 2017

1 reference

PMCID

1051887