(Q33755108)

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New aids for the non-invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confirmation using cell-free fetal DNA in maternal plasma.

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21105021%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

New aids for the non-invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confirmation using cell-free fetal DNA in maternal plasma (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21105021%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21105021%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Angela N Barrett

4

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21105021%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

7

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21105021%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

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D R Griffin

2

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21105021%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

C Meaney

3

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21105021%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

A Khalil

5

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21105021%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

E Pajkrt

6

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21105021%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

publication date

1 February 2011

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21105021%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Ultrasound in Obstetrics and Gynecology

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21105021%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

37

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21105021%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

3

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21105021%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

283-289

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21105021%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia

1 reference

https://api.crossref.org/works/10.1002%2FUOG.8893

21 January 2018

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia

1 reference

https://api.crossref.org/works/10.1002%2FUOG.8893

21 January 2018

Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome

1 reference

https://api.crossref.org/works/10.1002%2FUOG.8893

21 January 2018

Homozygous achondroplasia: US distinction between homozygous, heterozygous, and unaffected fetuses in the second trimester

1 reference

https://api.crossref.org/works/10.1002%2FUOG.8893

21 January 2018

Improved prenatal detection of a fetal point mutation for achondroplasia by the use of size-fractionated circulatory DNA in maternal plasma--case report

1 reference

https://api.crossref.org/works/10.1002%2FUOG.8893

21 January 2018

Smoothing reference centile curves: the LMS method and penalized likelihood

1 reference

https://api.crossref.org/works/10.1002%2FUOG.8893

21 January 2018

Respiratory complications of achondroplasia.

1 reference

https://api.crossref.org/works/10.1002%2FUOG.8893

21 January 2018

Distinct patterns of respiratory difficulty in young children with achondroplasia: a clinical, sleep, and lung function study

1 reference

https://api.crossref.org/works/10.1002%2FUOG.8893

21 January 2018

The lungs and airways in achondroplasia. Do little people have little lungs?

1 reference

https://api.crossref.org/works/10.1002%2FUOG.8893

21 January 2018

Suspected skeletal dysplasias: femur length to abdominal circumference ratio can be used in ultrasonographic prediction of fetal outcome.

1 reference

https://api.crossref.org/works/10.1002%2FUOG.8893

21 January 2018

Design and analysis of studies to derive charts of fetal size

1 reference

https://api.crossref.org/works/10.1002%2FUOG.8893

21 January 2018

Presence of fetal DNA in maternal plasma and serum

1 reference

https://api.crossref.org/works/10.1002%2FUOG.8893

21 January 2018

Non-invasive prenatal detection of achondroplasia in size-fractionated cell-free DNA by MALDI-TOF MS assay

1 reference

https://api.crossref.org/works/10.1002%2FUOG.8893

21 January 2018

Noninvasive prenatal diagnosis: current practice and future perspectives

1 reference

https://api.crossref.org/works/10.1002%2FUOG.8893

21 January 2018

Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis.

1 reference

https://api.crossref.org/works/10.1002%2FUOG.8893

21 January 2018

Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma

1 reference

https://api.crossref.org/works/10.1002%2FUOG.8893

21 January 2018

Noninvasive prenatal diagnosis of early onset primary dystonia I in maternal plasma

1 reference

https://api.crossref.org/works/10.1002%2FUOG.8893

21 January 2018

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