(Q33598374)

28 July 2017

1 reference

title

Medical genetics in South Africa (English)

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28 July 2017

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Jenkins T

1

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28 July 2017

language of work or name

English

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publication date

1 December 1990

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Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

27

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28 July 2017

issue

12

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28 July 2017

page(s)

760-779

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Lancelot Thomas Hogben, 9 December 1895 - 22 August 1975

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Spondylo-epi-metaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis.

21 June 2018

1 reference

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Female phenotype and multiple abnormalities in sibs with a Y chromosome and partial X chromosome duplication: H--Y antigen and Xg blood group findings

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Erythrocyte G-6-PD and 6-PGD genetic polymorphisms in South African Negroes, with a note on G-6-PD and the malaria hypothesis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Common birth defects in South African Blacks

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Chromosome patterns in 26 South African children with acute nonlymphocytic leukemia (ANLL).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Some economic and philosophical dilemmas facing medicine in South Africa.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Skeletal complications in osteogenesis imperfecta. A review of 153 South African patients

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Haematological genetics in the tropics. Part 1: Tropical Africa

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Congenital malformations. A report of a study of series of consecutive births in 24 centres

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Genetically determined hazards of blood transfusion within and between races

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Gammaglobulin groups (Gm and Inv) of various Southern African populations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

A genetic profile of the South African Ashkenazi Jewish population

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Myotonic dystrophy. Part I. A genealogical study in the northern Transvaal.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

The Martin-Bell syndrome in South Africa

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Use of R-loop mapping for the assessment of human collagen mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Intracellular activity of HPRT Cape Town: purine uptake and growth of cultured cells in selective media

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Low-density lipoprotein-receptor gene haplotypes in Afrikaans-speaking patients with homozygous familial hypercholesterolaemia. Further evidence in support of a founder gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Severe mental retardation in six generations of a large South African family carrying a translocation t(6;10)(q27;q25.2)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Inverted Y chromosome polymorphism in the Gujerati Muslim Indian population of South Africa

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Prevalence of familial hypercholesterolaemia in three rural South African communities.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Use of indicators in achieving 'Health for All' in South Africa, 1987.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Mebendazole 500 mg for single-dose treatment of nematode infestation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Postnatal and antenatal laboratory diagnosis of glutaric aciduria II in a South African family

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Pseudocholinesterase variation in southern African populations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Inherited disorders in the black population of southern Africa. Part I. Historical and demographic background; genetic haematological conditions

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

On the genetic interrelationships of South African Negroes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Haplotype associations of three DNA polymorphisms at the human low density lipoprotein receptor gene locus in familial hypercholesterolaemia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Neonatal screening for congenital hypothyroidism. A decade's review, including South Africa

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Defective LDL receptors that are common in a large population. Familial hypercholesterolaemia in South Africa.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Privatisation of South African health services--are the underlying assumptions correct?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Cytogenetics of chronic myelogenous leukemia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Linkage between the variegate porphyria (VP) and the alpha-1-antitrypsin (PI) genes on human chromosome 14.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

X-linked mixed deafness with stapes fixation in a Mauritian kindred: linkage to Xq probe pDP34.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Newly recognized autosomal dominant syndrome of rhizomelic shortness with clavicular defect

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Two mutant low-density-lipoprotein receptors in Afrikaners slowly processed to surface forms exhibiting rapid degradation or functional heterogeneity

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

XX true hermaphroditism in southern African blacks: an enigma of primary sexual differentiation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Mutations for the autosomal recessive and autosomal dominant forms of polycystic kidney disease are not allelic

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

A multidisciplinary diagnostic/genetic study on the 105 patients with mental retardation of the E.S. Le Grange School.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

The health and wealth of South Africa

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Medicine and health care in South Africa

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Molecular biology of the human fibrillar collagen genes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Emery-Dreifuss syndrome and X-linked muscular dystrophy with contractures: evidence for homogeneity

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Alpha-globin gene cluster haplotypes in the Kalahari San and southern African Bantu-speaking blacks

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Globin gene-associated restriction-fragment-length polymorphisms in southern African peoples

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

The HLA linked iron loading gene in an Afrikaner population

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Frequent RFLP recognised by an anonymous sequence localised to 11q13 - q14 [D11S.3.7.(E79)].

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Complete nucleotide sequence of the region encompassing the first twenty-five exons of the human pro alpha 1(I) collagen gene (COL1A1)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Organization of the human pro-alpha 2(I) collagen gene.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

The identification of two low-density lipoprotein receptor gene mutations in South African familial hypercholesterolaemia.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Autosomal recessive polycystic kidney disease. Evidence for high frequency of the gene in the Afrikaans-speaking population.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

A decade of mid-trimester amniocentesis in Johannesburg. Prenatal diagnosis, problems and counselling

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Beta-thalassaemia--the Johannesburg experience

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Increased expression of the gene for the pro alpha 1(IV) chain of basement-membrane procollagen in cultured skin fibroblasts from two variants of osteogenesis imperfecta

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

First trimester prenatal diagnosis by chorionic villus sampling. The Johannesburg experience with 48 cases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

A new anonymous marker on chromosome 7, D7S420, identifies a PvuII RFLP.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

An arbitrary single copy DNA sequence VC85 [D1S85] detects a 500 bp insertion/deletion polymorphism on chromosome 1.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Haplotypes identified by 10 DNA restriction fragment length polymorphisms at the human low density lipoprotein receptor gene locus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

An anonymous DNA probe (H38) [D10S37] detects a Msp I polymorphism on chromosome 10.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Cystic fibrosis in the South West African Afrikaner. An example of population drift, possibly with heterozygote advantage

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Progressive familial heart block--two types

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

The role of screening in the prevention of inherited disease in South Africa

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

The Resistance Factor to Plasmodium vivax in Blacks

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Ischaemic heart disease mortality rates in white south africans compared with other populations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Keratolytic winter erythema or 'oudtshoorn skin': a newly recognized inherited dermatosis prevalent in South Africa

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Gaucher's disease in South Africa

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Gaucher disease in the Afrikaner population of South Africa

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

X;15 translocation in a retarded girl: X inactivation pattern and attempt to localise the hexosaminidase A and other loci

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Sclerosteosis in South Africa

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Prenatal diagnosis and selective abortion

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Antenatal diagnosis in practice

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

The blood groups of the Bushmen

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

A host of hypercholesterolaemic homozygotes in South Africa.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Familial hypercholesterolaemia--a common genetic disorder in the Afrikaans population.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Two years of mid-trimester amniocentesis in Johannesburg.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Biochemical screening for inherited metabolic disorders in the mentally retarded.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Low density lipoprotein metabolism in cultured fibroblasts from a new group of patients presenting clinically with homozygous familial hypercholesterolemia

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Inherited disorders in the Afrikaner population of southern Africa. Part I. Historical and demographic background, cardiovascular, neurological, metabolic and intestinal conditions.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Fanconi anemia: another disease of unusually high prevalence in the Afrikaans population of South Africa

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

A methodology for resource allocation in health care for South Africa. Part I. Rationale and prerequisites

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017281

Prevalence of albinism in the South African negro

30 October 2018

1 reference

12 December 2020

Is transferrin normal in idiopathic haemochromatosis?

1 reference

12 December 2020

Chromosome 3 abnormalities in acute nonlymphocytic leukemia (ANLL) with abnormal thrombopoiesis: report of three patients with a "new" inversion anomaly and a further case of homologous translocation

1 reference

12 December 2020

Screening for inborn errors of metabolism among mentally retarded patients. Outcome of a surgery at the Witrand Care and Rehabilitation Centre

1 reference

12 December 2020

A 3-year cytogenetic survey of 9 661 patients in South Africa

1 reference

12 December 2020

Thalassaemia in the Greek community of Cape Town

1 reference

12 December 2020

A confirmed prenatal diagnosis of a female fetus with the fragile X chromosome

1 reference

12 December 2020

Myotonic dystrophy. Part II. A clinical study of 96 patients

1 reference

12 December 2020

The incidence of cleft lip and palate in the Western Cape

1 reference

12 December 2020

Human L-xylulose reductase variation: family and population studies

1 reference

12 December 2020

Cytogenetics and recombinant technology in male infertility

1 reference

12 December 2020

Idiopathic haemochromatosis. Family studies and results of a pilot prevalence survey

1 reference

12 December 2020

Genealogical study of lipoid proteinosis in South Africa

1 reference

12 December 2020

Congenital malformations associated with the administration of oral anticoagulants during pregnancy

1 reference

12 December 2020

1 reference

12 December 2020

Tay-Sachs disease screening and prevention in South Africa

1 reference

12 December 2020

Trimethylaminuria, diagnosed by gas chromatography with nitrogen detection

1 reference

12 December 2020

The tyrosinase-positive oculocutaneous albinism locus is not linked to the beta-globin locus in man

1 reference

12 December 2020

On the prevention of rhesus immunisation in the RSA

1 reference

12 December 2020

Blood cholesterol: is population screening warranted in the UK?

1 reference

12 December 2020

The ABO, MN, P and Rh blood group systems in the South African Bantu, a genetic study

1 reference

12 December 2020

Sex chromosomes and abnormal sex development

1 reference

12 December 2020

The purification and properties of glucose-6-phosphate dehydrogenase from human erythrocytes

1 reference

12 December 2020

GENETICS IN MEDICAL EDUCATION

1 reference

12 December 2020

The blood groups of the Hottentots

1 reference

12 December 2020

The molecular defect in an autosomal dominant form of osteogenesis imperfecta. Synthesis of type I procollagen containing cysteine in the triple-helical domain of pro-alpha 1(I) chains

1 reference

12 December 2020

Biochemical and genetic properties of HPRT Cape Town

1 reference

12 December 2020

Chromosome 3q21 abnormalities associated with hyperactive thrombopoiesis in acute blastic transformation of chronic myeloid leukemia

1 reference

12 December 2020

Association of a DNA polymorphism in the apolipoprotein C-III gene with diverse hyperlipidaemic phenotypes

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.27.12.760

1 reference

28 July 2017

1 reference

28 July 2017

1 reference