(Q33916574)

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Mutations in MKKS cause Bardet-Biedl syndrome

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Europe PubMed Central

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30 July 2017

Mutations in MKKS cause Bardet-Biedl syndrome (English)

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Europe PubMed Central

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30 July 2017

Bardet-Biedl syndrome

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Slavotinek AM

1

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Europe PubMed Central

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30 July 2017

Stone EM

2

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Europe PubMed Central

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30 July 2017

Mykytyn K

3

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Europe PubMed Central

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30 July 2017

Heckenlively JR

4

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30 July 2017

Green JS

5

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30 July 2017

Heon E

6

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30 July 2017

Musarella MA

7

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30 July 2017

Parfrey PS

8

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30 July 2017

Sheffield VC

9

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30 July 2017

Biesecker LG

10

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30 July 2017

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1 September 2000

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30 July 2017

Nature Genetics

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30 July 2017

26

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30 July 2017

1

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30 July 2017

15-16

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30 July 2017

The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1038%2F79116

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome

1 reference

https://api.crossref.org/works/10.1038%2F79116

7 January 2021

based on heuristic

inferred from DOI database lookup

Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity

1 reference

https://api.crossref.org/works/10.1038%2F79116

7 January 2021

based on heuristic

inferred from DOI database lookup

Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous.

1 reference

https://api.crossref.org/works/10.1038%2F79116

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping

1 reference

https://api.crossref.org/works/10.1038%2F79116

7 January 2021

based on heuristic

inferred from DOI database lookup

Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15

1 reference

https://api.crossref.org/works/10.1038%2F79116

7 January 2021

based on heuristic

inferred from DOI database lookup

A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31

1 reference

https://api.crossref.org/works/10.1038%2F79116

7 January 2021

based on heuristic

inferred from DOI database lookup

Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21.

1 reference

https://api.crossref.org/works/10.1038%2F79116

7 January 2021

based on heuristic

inferred from DOI database lookup

HYDROMETROCOLPOS AS A SIMPLY INHERITED MALFORMATION.

1 reference

https://api.crossref.org/works/10.1038%2F79116

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic and physical mapping of the McKusick-Kaufman syndrome

1 reference

https://api.crossref.org/works/10.1038%2F79116

7 January 2021

based on heuristic

inferred from DOI database lookup

Detection of chromosomal aberrations by a whole-genome microsatellite screen

1 reference

https://api.crossref.org/works/10.1038%2F79116

7 January 2021

based on heuristic

inferred from DOI database lookup

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Europe PubMed Central

PubMed publication ID

30 July 2017

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PubMed publication ID

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Europe PubMed Central

PubMed publication ID

30 July 2017

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