Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract (Q39160569)

19 February 2018

title

Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract (English)

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19 February 2018

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18

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19 February 2018

Fowzan S Alkuraya

20

object named as

Fowzan S Alkuraya

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19 February 2018

5

Arif O Khan

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19 February 2018

Dorota Monies

3

object named as

Dorota Monies

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19 February 2018

author name string

Nisha Patel

1

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Deepti Anand

2

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Sateesh Maddirevula

4

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Talal Algoufi

6

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Mohammed Alowain

7

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Eissa Faqeih

8

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19 February 2018

Muneera Alshammari

9

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19 February 2018

Ahmed Qudair

10

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Hadeel Alsharif

11

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Fatimah Aljubran

12

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19 February 2018

Hessa S Alsaif

13

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Niema Ibrahim

14

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Firdous M Abdulwahab

15

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Mais Hashem

16

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Haifa Alsedairy

17

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Salil A Lachke

19

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language of work or name

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22 November 2016

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19 February 2018

published in

Human Genetics

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19 February 2018

volume

136

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19 February 2018

issue

2

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19 February 2018

page(s)

205-225

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19 February 2018

describes a project that uses

Cytoscape

1 reference

9 June 2022

https://europepmc.org/search?query=(METHODS:'Cytoscape')

based on heuristic

inferred from PubMed Central ID database lookup

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17 June 2018

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17 June 2018

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17 June 2018

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17 June 2018

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17 June 2018

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17 June 2018

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17 June 2018

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17 June 2018

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17 June 2018

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The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis

17 June 2018

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17 June 2018

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17 June 2018

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Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield

17 June 2018

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Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies

21 August 2018

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

21 August 2018

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Personalized diagnosis and management of congenital cataract by next-generation sequencing.

21 August 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5783298

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21 August 2018

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Measuring and interpreting the incidence of congenital ocular anomalies: lessons from a national study of congenital cataract in the UK.

21 August 2018

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Molecular cloning and functional analysis of a novel Cx43 partner protein CIP150

21 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27878435

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Long-term results of pediatric cataract surgery after delayed diagnosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27878435

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00439-016-1747-6

1 reference

19 February 2018

PMC publication ID

5783298

1 reference

19 February 2018

PubMed publication ID

27878435

1 reference

19 February 2018