(Q53344093)

13 May 2018

title

A history of medical genetics in pediatrics. (English)

1 reference

13 May 2018

0 references

1

David L Rimoin

1 reference

13 May 2018

author name string

Kurt Hirschhorn

series ordinal

2

1 reference

13 May 2018

language of work or name

English

0 references

publication date

5 May 2004

1 reference

13 May 2018

published in

Pediatric Research

1 reference

13 May 2018

volume

56

1 reference

13 May 2018

issue

1

1 reference

13 May 2018

page(s)

150-159

1 reference

13 May 2018

https://scigraph.springernature.com/pub.10.1203/01.pdr.0000129659.32875.84

exact match

0 references

cites work

James V. Neel, M.D., Ph.D. (March 22, 1915-January 31, 2000): founder effect

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000129659.32875.84

Errors of morphogenesis and developmental field theory

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000129659.32875.84

THE CHROMOSOME NUMBER OF MAN

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000129659.32875.84

A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000129659.32875.84

A case of human intersexuality having a possible XXY sex-determining mechanism

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000129659.32875.84

Multiple congenital anomaly caused by an extra autosome

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000129659.32875.84

21 January 2018

A new trisomic syndrome

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000129659.32875.84

Contiguous gene syndromes: a component of recognizable syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000129659.32875.84

Letter: A new consistent chromosomal abnormality in chronic myelogenous leukaemia identified by quinacrine fluorescence and Giemsa staining

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000129659.32875.84

Quantitative analysis of high-resolution trypsin-giemsa bands on human prometaphase chromosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000129659.32875.84

High Resolution of Human Chromosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000129659.32875.84

SELECTION OF HYBRIDS FROM MATINGS OF FIBROBLASTS IN VITRO AND THEIR PRESUMED RECOMBINANTS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000129659.32875.84

DEMONSTRATION OF TWO POPULATIONS OF CELLS IN THE HUMAN FEMALE HETEROZYGOUS FOR GLUCOSE-6-PHOSPHATE DEHYDROGENASE VARIANTS

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000129659.32875.84

Non-inactivation of an X-Chromosome Locus in Man

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000129659.32875.84

Probable assignment of the Duffy blood group locus to chromosome 1 in man

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000129659.32875.84

Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000129659.32875.84

Molecular Structure of Nucleic Acids: A Structure for Deoxyribose Nucleic Acid

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000129659.32875.84

A physical map of the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000129659.32875.84

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000129659.32875.84

Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000129659.32875.84

Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000129659.32875.84

A comprehensive review of genetic association studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000129659.32875.84

The introduction of newborn screening for phenylketonuria. A personal history.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000129659.32875.84

The influence of phenylalanine intake on the chemistry and behaviour of a phenyl-ketonuric child.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000129659.32875.84

Tay-Sachs Disease: Generalized Absence of a Beta-D- N -Acetylhexosaminidase Component

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000129659.32875.84

A simple and sensitive erythroblast scoring system to identify fetal cells in maternal blood.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000129659.32875.84

First clinical application of comparative genomic hybridization and polar body testing for preimplantation genetic diagnosis of aneuploidy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000129659.32875.84

New pathways of nitrogen excretion in inborn errors of urea synthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000129659.32875.84

Integration of cytogenetic landmarks into the draft sequence of the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000129659.32875.84

Antenatal Sex Determination

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000129659.32875.84

Festschrift in honor of David W. Smith

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000129659.32875.84

Human intersex with chromosome mosaicism of type XY/XO. Report of a case

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000129659.32875.84

A Mongol girl with 46 chromosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000129659.32875.84

20. Screening and prevention in Tay-Sachs disease: Origins, update, and impact

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000129659.32875.84

Chromosome analysis of human amniotic-fluid cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000129659.32875.84

10.1203/01.PDR.0000129659.32875.84

21 January 2018

Identifiers

DOI

1 reference

13 May 2018

Dimensions Publication ID

0 references

1 reference

13 May 2018