(Q41649811)

6 October 2017

0 references

Low segregation ratios in autosomal recessive disorders (English)

1 reference

6 October 2017

Bundey S

1

1 reference

PMCID

1016413

6 October 2017

Young ID

series ordinal

2

1 reference

PMCID

1016413

6 October 2017

language of work or name

English

0 references

publication date

1 June 1993

1 reference

6 October 2017

3

1 reference

Journal of Medical Genetics

inferred from page(s)

published in

1 reference

6 October 2017

30

1 reference

6 October 2017

6

1 reference

6 October 2017

449-451

1 reference

A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016413

Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016413

Family size limitation: a method for demonstrating recessive inheritance

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016413

Type II achondrogenesis-hypochondrogenesis: morphologic and immunohistopathologic studies

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016413

Type I procollagen: the gene-protein system that harbors most of the mutations causing osteogenesis imperfecta and probably more common heritable disorders of connective tissue.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016413

The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016413

The need for care in the use of linkage analysis for genetic diagnosis in small families, with particular reference to uniparental disomy.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016413

Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016413

A genetic study of subacute and chronic spinal muscular atrophy in childhood. A nosological analysis of 124 index patients

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016413

A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa

6 June 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8179645

12 December 2020

inferred from PubMed ID database lookup

No evidence for linkage of autosomal dominant proximal spinal muscular atrophies to chromosome 5q markers

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8179645

12 December 2020

inferred from PubMed ID database lookup

Unusual features in the inheritance of ataxia telangiectasia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8179645

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1136/JMG.30.6.449

1 reference

6 October 2017

1 reference

6 October 2017

1 reference

PMCID

1016413