(Q39813578)

14 September 2017

Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden (English)

1 reference

autosomal recessive disease

14 September 2017

0 references

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27124789%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

2

Turki Sobahy

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27124789%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Nisha Patel

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27124789%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Hanan E Shamseldin

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27124789%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Dorota Monies

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27124789%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Nada Al Tassan

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27124789%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Faiqa Imtiaz

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27124789%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Ranad Shaheen

10

1 reference

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4 June 2020

Fowzan S Alkuraya

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27124789%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

author name string

Mohamed Abouelhoda

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27124789%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Khushnooda Ramzan

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27124789%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

language of work or name

English

0 references

publication date

28 April 2016

1 reference

14 September 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27124789%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

volume

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27124789%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27124789%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

page(s)

1244-1249

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27124789%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/gim.2016.37

4 June 2020

exact match

0 references

cites work

Mendelian disorders deserve more attention

1 reference

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Natural selection on protein-coding genes in the human genome

21 January 2018

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Human knockout research: new horizons and opportunities

21 January 2018

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On the allelic spectrum of human disease

21 January 2018

1 reference

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How malaria has affected the human genome and what human genetics can teach us about malaria

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.37

Human population genetics: lessons from Finland

21 January 2018

1 reference

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A genetic profile of contemporary Jewish populations

21 January 2018

1 reference

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21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.37

How can we reduce the global burden of disease?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.37

Impact of new genomic tools on the practice of clinical genetics in consanguineous populations: the Saudi experience

21 January 2018

1 reference

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Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

21 January 2018

1 reference

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Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases

21 January 2018

1 reference

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Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.37

Genetics and genomic medicine in Saudi Arabia

21 January 2018

1 reference

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Consanguinity among the Saudi Arabian population

21 January 2018

1 reference

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High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders

21 January 2018

1 reference

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Premarital screening for thalassemia and sickle cell disease in Saudi Arabia.

21 January 2018

1 reference

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Newborn screening: experiences in the Middle East and North Africa

21 January 2018

1 reference

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Ethical issues with newborn screening in the genomics era

21 January 2018

1 reference

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Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.37

Distribution of Sickle-cell Hæmoglobin in Saudi Arabia

21 January 2018

1 reference

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The morbid anatomy of the human genome: the role of gene mapping in clinical medicine

21 January 2018

1 reference

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7 January 2021

Allelic heterogeneity in inbred populations: the Saudi experience with Alström syndrome as an illustrative example

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.37

7 January 2021

A novel missense mutation in SCYL1BP1 produces geroderma osteodysplastica phenotype indistinguishable from that caused by nullimorphic mutations.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.37

7 January 2021

Points to consider in the clinical application of genomic sequencing

1 reference

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7 January 2021