(Q24676952)

1

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H Mandel

2

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T Raz

3

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R Szargel

4

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C N Yandava

5

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A Stagg

6

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S Fauré

7

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N Buist

9

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N Cohen

American Journal of Human Genetics

10

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language of work or name

English

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publication date

December 1997

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published in

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volume

61

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issue

6

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page(s)

1335-41

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cites work

A comprehensive genetic map of the human genome based on 5,264 microsatellites

1 reference

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Strategies for multilocus linkage analysis in humans

7 April 2017

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Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4

7 April 2017

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Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

7 April 2017

1 reference

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A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome

7 April 2017

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Thiamine responsive anaemia: a study of two further cases

28 September 2017

1 reference

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Thiamine-dependent anemia and thrombocytopenia, insulin-dependent diabetes mellitus and sensorineural deafness--case report and review

28 September 2017

1 reference

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Thiamine-responsive anemia in DIDMOAD syndrome

28 September 2017

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Friedreich ataxia in Louisiana Acadians: demonstration of a founder effect by analysis of microsatellite-generated extended haplotypes

28 September 2017

1 reference

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Juvenile diabetes, tapeto-retinal degeneration, neurogenic hearing disorder (Alström syndrome), associated with congenital dyserythropoietic type III anemia

28 September 2017

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Thiamine-responsive megaloblastic anemia, sensorineural deafness, and diabetes mellitus: A new syndrome?

30 May 2018

1 reference

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Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland

30 May 2018

1 reference

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Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness.

28 July 2018

1 reference

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Diabetes mellitus, thiamine-dependent megaloblastic anemia, and sensorineural deafness associated with deficient alpha-ketoglutarate dehydrogenase activity

28 November 2018

1 reference

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Molecular genotyping shows that ataxia-telangiectasia heterozygotes are predisposed to breast cancer

28 November 2018

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12 December 2020

Studies on thiamine metabolism in thiamine-responsive megaloblastic anaemia

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12 December 2020

Treatment of DIDMOAD syndrome with thiamine

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12 December 2020

Incidence of cancer in 161 families affected by ataxia-telangiectasia

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12 December 2020

Thiamine responsive anemia: report of a new case associated with a thiamine pyrophosphokinase deficiency

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12 December 2020

Further studies on erythrocyte thiamin transport and phosphorylation in seven patients with thiamin-responsive megaloblastic anaemia

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12 December 2020

Thiamine-responsive megaloblastic anemia

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12 December 2020

Thiamine-dependent beriberi in the "thiamine-responsive anemia syndrome"

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12 December 2020